Adult respiratory distress syndrome (ARDS) is characterized by a delay in onset (12-24 hours) following injury, shock, and/or successful resuscitative effort. Septic shock, extrathoracic trauma, central nervous system (CNS) pathology, fat embolism, oxygen toxicity, head and facial injuries, and massive blood transfusions can lead to ARDS. It is characterized by hypoxia and pulmonary infiltrates secondary to increased pulmonary vascular permeability, microvascular hemorrhage, or both.
Aide syndrome is characterized by decreased pupillary reaction and deep tendon reflex. The etiology is unknown.
Alagille syndrome is marked by cardiovascular abnormalities, characteristic facial appearance, chronic cholestasis, growth retardation, hypogonadism, mental retardation, vertebral arch defect, temporal bone anomalies in the cochlear aqueduct, ossicles, semicircular canals (SCCs), and subarcuate fossa. Liver transplantation is a possible treatment.
A genetic disorder also known as osteopetrosis, Albers-Schönberg disease results in progressive increase in the density (but also increase in weakness) of the bones in the skeletal system. Vascular nutrition to affected bones is also decreased by this disease. Broken down into three categories, there is osteopetrosis with precocious manifestations, osteopetrosis with delayed manifestations, and pyknodysostosis. In the mandible long-term antibiotic therapy, multiple debridements, sequestrectomies, or even resection are possible treatments.
Polyostotic fibrous dysplasia usually manifests early in life as multicentric lesions involving the long bones and bones of the face and skull with scattered skin lesions similar to melanotic café au lait spots and precocious puberty in female patients. Frequently, there is an elevation of serum alkaline phosphatase as well as endocrine abnormalities.
Thrombocytopenia, eczema, and recurrent infections occur during the first year of life. It is inherited through a sex-linked recessive gene. The bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes are normal in number.
Granular macular pigment epitheliopathy (foveal dystrophy) is associated with sensorineural hearing loss. Visual acuity is usually normal. Amalric syndrome may be a genetic disorder, or it may be the result of an intrauterine rubella infection.
See Takayasu Disease.
Apert syndrome is not to be confused with Pfeiffer syndrome, which has different types of hand malformations.
Ascher syndrome is a combination of blepharochalasis, double lip, and goiter.
Auriculotemporal syndrome is characterized by localized flushing and sweating of the ear and cheek region in response to eating. It usually occurs after parotidectomy. It is assumed that the parasympathetic fibers of the ninth nerve innervate the sweat glands after parotidectomy. It has been estimated that 20% of the parotidectomies in children result in this disorder.
Unilateral paralysis of the larynx and velum palati, with contralateral loss of pain and temperature sensitivity in the parts below the larynx characterize Avellis syndrome. The syndrome is caused by involvement of the nucleus ambiguus or the vagus nerve along with the cranial portion of the ninth nerve.
Babinski-Nageotte syndrome is caused by multiple or scattered lesions, chiefly in the distribution of the vertebral artery. Ipsilateral paralysis of the soft palate, larynx, pharynx, and sometimes tongue occurs. There is also ipsilateral loss of taste on the posterior third of the tongue, loss of pain and temperature sensation around the face, and cerebellar asynergia. Horner syndrome with contralateral spastic hemiplegia and loss of proprioceptive and tactile sensation may also be present.
Painless papules at the openings of the ducts of the mucous glands of the lips with free exudation of mucus are characteristic. Congenital and familial forms are precancerous. Acquired forms are benign and caused by irritating substances.
A relatively benign form of acute unilateral or bilateral facial palsy that is associated with lymphocytic reactions and an increased protein level in the cerebrospinal fluid (CSF) with minimal, if any, meningeal symptoms is known as Bannwarth syndrome. Neuralgic or radicular pain without facial palsy and unilateral or bilateral facial palsy of acute onset are symptoms of this syndrome. A virus has been suggested as a possible etiology. Males are more often affected than females, with the greatest number of cases occurring in the months of August and September.
Barany syndrome is a combination of unilateral headache in the back of the head, periodic ipsilateral deafness (alternating with periods of unaffected hearing), vertigo, and tinnitus. The syndrome complex may be corrected by induced nystagmus.
Vallecular dysphagia is present.
Occipital headache, vertigo, tinnitus, vasomotor disorders, and facial spasm due to irritation of the sympathetic plexus around the vertebral artery in rheumatic disorders of the cervical spine are characteristic. It is also known as cervical migraine.
Barrett syndrome is characterized by esophagitis due to change in the epithelium of the esophagus.
A diffuse esophageal spasm, caused by disruption of the peristaltic waves by an irregular contraction resulting in dysphagia and regurgitation, is evidence of this syndrome. It most commonly affects excitable elderly persons.
This familial syndrome, non–sex-linked and autosomal dominant with high penetrance and variable expressivity, manifests early in life. It appears as multiple nevoid basal cell epitheliomas of the skin, cysts of the jaw, abnormal ribs and metacarpal bones, frontal bossing, and dorsal scoliosis. Endocrine abnormalities have been reported and it has been associated with medulloblastoma. The cysts in the jaw, present only in the maxilla and mandible, are destructive to the bone. The basal cell epitheliomas are excised as necessary, and the cysts in the jaw rarely recur after complete enucleation.
Dysphagia lusoria is said to be secondary to esophageal compression from an aberrant right subclavian artery.
This is a congenital disorder characterized by macroglossia, omphalocele, hypoglycemia, pancreatic hyperplasia, noncystic renal hyperplasia, and cytomegaly of the fetal adrenal cortex.
Of unknown etiology, this disease runs a protracted course with periods of relapse and remission. It manifests as indolent ulcers of the mucous membrane and skin, stomatitis, as well as anogenital ulceration, iritis, and conjunctivitis. No definitive cure is known, though steroids help.
Sarcoidosis is present.
An autosomal recessive growth disorder, Bloom syndrome is associated with chromosomal breaks and rearrangements. It is also associated with an unusually high rate of cancer at an early age. Associated with facial erythema, growth retardation, immunodeficiency, infertility, and sun sensitivity, diagnosis is confirmed by chromosome analysis. Anomalous numbers of digits or teeth, asymmetric legs, heart malformation, hypopigmented spots in blacks, protruding ears, sacral dimple, simian line, and urethral or meatal narrowing are less common characteristics. For head and neck tumor patients, there is an increased chance of secondary and primary tumors.
Bogorad syndrome is also known as the syndrome of crocodile tears, characterized by residual facial paralysis with profuse lacrimation during eating. It is caused by a misdirection of regenerating autonomic fibers to the lacrimal gland instead of to the salivary gland.
Sudden trigeminal neuralgia accompanied by Horner syndrome and vasomotor disorders in the area supplied by the trigeminal nerve are manifestations of this syndrome.
Bonnier syndrome is caused by a lesion of Deiters nucleus and its connection. Its symptoms include ocular disturbances (eg, paralysis of accommodation, nystagmus, diplopia), deafness, nausea, thirst, and anorexia, as well as other symptoms referable to involvement of the vagal centers, cranial nerves VIII, IX, X, and XI, and the lateral vestibular nucleus. It can simulate Ménière disease.
Bourneville syndrome is a familial disorder whose symptoms include polyps of the skin, harelip, moles, spina bifida, and microcephaly.
Bowen disease is a precancerous dermatosis characterized by the development of pinkish or brownish papules covered with a thickened horny layer. Histologically, it shows hyperchromatic acanthotic cells with multinucleated giant cells. Mitoses are frequently observed.
Branchio-oto-renal syndrome is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular tissues, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Many of the following symptoms (but not necessarily all) are present.
Conductive or mixed hearing loss
Cup-shaped, anteverted pinnae with bilateral preauricular sinuses
Bilateral branchial cleft fistulas or sinuses
Renal dysplasia
This syndrome is among a group of syndromes characterized by deformities associated with the first and second branchial complexes. The precise incidence of the disorder is unknown.
Briquet syndrome is characterized by a shortness of breath and aphonia due to hysteric paralysis of the diaphragm.
Unilateral spasm of the tongue and lips of a hysteric nature are characteristic.
Brown syndrome is a congenital or acquired abnormality of the superior oblique muscle tendon characterized by vertical diplopia and the inability to elevate the eye above midline or medial gaze. This syndrome is of two types: true and simulated. True Brown syndrome is always congenital. Simulated Brown syndrome is either congenital or acquired. The congenital simulated type may be caused by thickening of an area in the posterior tendon or by the firm attachment of the posterior sheath to the superior oblique tendon. The acquired simulated type may be caused by inflammation extending from the adjacent ethmoid cells to the posterior sheath and tendon, an orbital floor fracture, frontal ethmoidal fracture, crush fracture of nasal bones, sinusitis, frontal sinus surgery, or surgical tucking of the superior oblique tendon.
Vertigo, headache, vomiting, and visual disturbances due to an obstruction of CSF flow during positional changes of the head are seen. The main causes of this syndrome include cysts and cysticercosis of the fourth ventricle as well as tumors of the midline cerebellum and third ventricle.
Burckhardt dermatitis appears as an eruption of the external ear. It consists of red papules and vesicles that appear after exposure to sunlight. The rash usually resolves spontaneously.
Of familial tendency, its onset is usually during the first year of life. It is characterized by hyperirritability, fever, and hard nonpitting edema that overlie the cortical hyperostosis. Pathologically, it involves the loss of periosteum with acute inflammatory involvement of the intratrabecular bone and the overlying soft tissue. Treatment is supportive, consisting of steroids and antibiotics. The prognosis is good. The mandible is the most frequently involved site.
This symptom complex occurs in men and women who work in high air pressures and are returned too suddenly to normal atmospheric pressure. Similar symptoms may occur in fliers when they suddenly ascend to high altitudes unprotected by counterpressure. It results from the escape from solution in the body fluids of bubbles (mainly nitrogen) originally absorbed at higher pressure. Symptoms include headache; pain in the epigastrium, sinuses, and tooth sockets; itchy skin; vertigo; dyspnea; coughing; nausea; vomiting; and sometimes paralysis. Peripheral circulatory collapse may be present. Nitrogen bubbles have been found in the white matter of the spinal cord. It also can injure the inner ear through necrosis of the organ of Corti. There is a question of rupture of the round window membrane; hemotympanum and eustachian tube obstruction may occur.
The name is derived from a Greek word meaning curvature of extremities. The syndrome is characterized by dwarfism, craniofacial anomalies, and bowing of the tibia and femur, with malformation of other bones. The patient has cutaneous dimpling overlying the tibial bend. Respiratory distress is common, and the patient has an early demise in the first few months of life. In the otolaryngologic area, the patient exhibits a prominent forehead, flat facies with a broad nasal bridge and low-set ears, cleft palate, mandibular hypoplasia, and tracheobronchial malacia that contributes to the respiratory distress and neonatal death. Histologically, two temporal bone observations showed defective endochondral ossification with no cartilage cells in the endochondral layer of the otic capsule. The cochlea was shortened and flattened, presenting a scalar communis. The vestibule and the SCC were deformed by bone invasion.
This syndrome is often of unknown etiology, although some believe it is autosomal recessive. Others believe it may be due to an exogenous cause.
This syndrome is not to be confused with Pierre Robin syndrome, which presents with very similar clinical features.
This is an autosomal dominant disorder characterized by spongy white lesions of the oral and nasal mucosa. The lesions are asymptomatic and may be found from the newborn period with increasing severity until adolescence. The histologic picture is that of keratosis, acanthosis, and parakeratosis.
The symptoms include episodic flushing, diarrhea, and ascites. The tumor secretes serotonin. Treatment is wide excision. The tumor may give a positive dopa reaction.
When the carotid sinus is abnormally sensitive, slight pressure on it causes a marked fall in blood pressure due to vasodilation and cardiac slowing. Symptoms include syncope, convulsions, and heart block.
Castleman disease was first described by Castelman et al in 1954. It is a benign lymphoepithelial disease that is most often mistaken for lymphoma. It is also known as localized nodal hyperplasia, angiomatous lymph node hyperplasia, lymphoid hamartoma, and giant lymph nodal hyperplasia. Symptoms include tracheobronchial compression, such as cough, dyspnea, hemoptysis, or dysphagia. Masses in the neck are also not uncommon. There are two histologic types: the hyaline vascular type and the plasma cell type. Follicles in the hyaline vascular type are traversed by radially oriented capillaries with plump endothelial cells and collagenous hyalinization surrounding the vessels. The follicles in the plasma cell type are normal in size without capillary proliferation or hyalinization. Intermediate forms exist but are rare. Treatment entails complete excision of the mass. Etiology is unknown.
The cavernous sinus receives drainage from the upper lip, nose, sinuses, nasopharynx, pharynx, and orbits. It drains into the inferior petrosal sinus, which in turn drains into the internal jugular vein. The cavernous sinus syndrome is caused by thrombosis of the cavernous intracranial sinus, 80% of which is fatal. The symptoms include orbital pain (V1) with venous congestion of the retina, lids, and conjunctiva. The eyes are proptosed with exophthalmos. The patient has photophobia and involvement of nerves II, III, IV, and V1. The treatment of choice is anticoagulation and antibiotics. The most common cause of cavernous sinus thrombosis is ethmoiditis. The ophthalmic vein and artery are involved as well. (The nerves and veins are lateral to the cavernous sinus, and the internal carotid artery is medial to it.)
Cestan-Chenais syndrome is caused by occlusion of the vertebral artery below the point of origin of the posteroinferior cerebellar artery. There is paralysis of the soft palate, pharynx, and larynx. Ipsilateral cerebellar asynergia and Horner syndrome are also present. There is contralateral hemiplegia and diminished proprioception and tactile sensation.
This is a familial syndrome consisting of popliteal webbing, cleft lip, cleft palate, lower lip fistula, syndactyly, onychodysplasia, and pes equinovarus.
This disorder is seen in the newborn with unilateral facial weakness or paralysis in conjunction with comparable weakness or paralysis of the contralateral vocal cord, the muscles of deglutition, or both. The disorder is secondary to lateral flexion of the head in utero, which compresses the thyroid cartilage against the hyoid or cricoid cartilages or both, thereby injuring the recurrent or superior laryngeal nerve, or both.
This is a hereditary and degenerative disease that includes the olivopontocerebellar, cerebelloparenchymal, and spinocerebellar disorders and the neuropathies. This disease is characterized by chronic degeneration of the peripheral nerves and roots; and distal muscle atrophy in feet, legs, and hands. Deep tendon reflexes are usually nil. It is also associated with hereditary cerebellar ataxia features, optic atrophy, and other cranial involvement. Some suggest that this disease is linked to auditory dysfunction and that it is also linked to other CNS dysfunctions. This disease can be progressive, and it can also spontaneously arrest.
CHARGE syndrome (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and development, genital and/or urinary abnormalities, and ear abnormalities and deafness) is a genetic pattern of birth defects which occur one in 10,000 births worldwide, without any family history. It involves heart defects, breathing and swallowing difficulties, hearing loss, vision loss, and balance problems.
| Feature | Includes | Frequency (%) |
|---|---|---|
| Coloboma of the eye | Coloboma (sort of like a cleft) of the iris, retina, choroid, macula, or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): Causes vision loss | 80-90 |
| Choanal atresia or stenosis | They can be stenosed or atretic. It can be unilateral or bilateral, bony, or membranous. | 50-60 |
| Cranial nerve abnormality | I—Missing or decreased sense of smell | 90-100 |
| IX/X—Swallowing difficulties, aspiration | 70-90 | |
| VII—Facial palsy (one side or both) | 40 | |
| CHARGE outer ear | Short, wide ear with little or no lobe, “snipped off” helix, prominent antihelix which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric | > 50 |
| CHARGE middle ear | Malformed bones of the ossicles: Conductive hearing loss | Common |
| CHARGE inner ear | Mondini defect; small or absent semicircular canals: Balance problems and sensorineural loss | 90 |
| Feature | Includes | Frequency (%) |
|---|---|---|
| Heart defects | Can be any type, but many are complex, such as tetralogy of Fallot | 75 |
| Cleft lip ± cleft palate | Cleft lip with or without cleft palate, cleft palate, submucous cleft palate | 20 |
| TE fistula | Esophageal atresia, tracheoesophageal fistula (TEF), H-shaped TEF | 15-20 |
| Kidney abnormalities | Small kidney, missing kidney, misplaced kidney, reflux | 40 |
| Genital abnormalities | Males: small penis, undescended testes Females: small labia, small or missing uterus Both: lack of puberty without hormone intervention | 50 25 90 |
| Growth deficiency | Growth hormone deficiency Other short stature | 15 70 |
| Typical CHARGE face | Square face with broad prominent forehead, arched eyebrows, large eyes, occasional ptosis, prominent nasal bridge with square root, thick nostrils, prominent nasal columella, flat midface, small mouth, occasional small chin, larger chin with age. Facial asymmetry even without facial palsy | |
| Palm crease | Hockey-stick palmar crease | 50 |
| CHARGE behavior | Perseverative behavior in younger individuals, obsessive compulsive behavior in older individuals | > 50 |
Chédiak-Higashi syndrome is the result of an autosomal recessive trait. It is characterized by albinism, photophobia, nystagmus, hepatosplenomegaly, anomalous cellular granules, and development of lymphoma. These patients usually die during childhood of fulminant infections.
This syndrome is transmitted in an autosomal dominant manner with 80% penetrance; it occurs in 1 per 100,000 live births. Usually bilateral, symmetrically located depressions are noted on the vermilion portion of the lower lip and communicate with the underlying minor salivary glands. The lip pits may be an isolated finding (33%) or be found with cleft lip palate (67% of cases). Associated anomalies of the extremities may include talipes equinovarus, syndactyly, and popliteal pterygia. Congenital lip pits have also been seen in association with the oral-facial-digital syndrome.
Cockayne syndrome is autosomal recessive, progressive bilateral sensorineural hearing loss, associated with dwarfism, facial disharmony, microcephaly, mental deficiency, retinitis pigmentosa, optic atrophy, intracranial calcification, and multiple dental caries. Patients succumb to respiratory or genitourinary infection in the teens or twenties.
Nonsyphilitic interstitial keratitis and vestibuloauditory symptoms are characteristics of Cogan syndrome. Interstitial keratitis gives rise to rapid visual loss. Symptoms include episodic severe vertigo accompanied by tinnitus, spontaneous nystagmus, ataxia, and progressive sensorineural hearing loss. There are remissions and exacerbations. It is believed to be related to periarteritis nodosa. Eosinophilia has been reported in this entity. Pathologically, it is a degeneration of the vestibular and spiral ganglia with edema of the membranous cochlea, SCCs, and inflammation of the spiral ligament. Treatment with steroids has been advocated.
Cyclophosphamide and azathioprine have been used in addition to prednisone (40 mg daily). This syndrome is not to be confused with Ménière disease despite vertiginous symptoms and fluctuating hearing loss. Vogt-Koyanagi-Harada syndrome is also similar but involves alopecia, poliosis, and exudative uveitis. Syphilis is also confused with this syndrome, but in syphilis, the interstitial keratitis is old and usually does not demonstrate active inflammatory changes. Syphilitic involvement of the cornea is often centrally located. Follow-up treatment of patients must be thorough in order to detect more extensive involvement, such as systemic vasculitis or aortitis.
The 9th, 10th, and 11th nerves are involved with normal sympathetic nerves. The etiology is usually a meningioma or other lesion involving the nerves in the posterior cranial fossa.
The most common variant of chondrodysplasia punctata; this syndrome is characterized by punctate epiphyseal calcifications. Clinical features include saddle nose deformity, micromelia, rhizomelia, short stature, flexion contractures, and dermatoses. This syndrome is also known as chondrodystrophia epiphysialis punctata, stippled epiphysis disease, dysplasia epiphysialis punctata, chondroangiopathia calcarea punctata, and Conradi disease. Some cases point to sporadic mutations and others to autosomal dominant patterns of inheritance. The clinical features of this syndrome are so varied from case to case that only a complete workup can exclude other versions of this syndrome.
Costen syndrome is a temporomandibular joint (TMJ) abnormality, usually due to impaired bite and characterized by tinnitus, vertigo, and pain in the frontal, parietal, and occipital areas with a blocked feeling and pain in the ear. After a careful workup to rule out other abnormalities, the patient is treated with aspirin, heat, and slow exercise of the joint. An orthodontist may help the patient. The TMJ differs from other joints by the presence of avascular fibrous tissue covering the articulating surfaces with an interposed meniscus dividing the joint into upper and lower compartments. The right and left TMJs act as one functional unit. The condyle is made up of spongy bone with marrow and a growth center. The condyle articulates with the glenoid fossa of the temporal bone (squamosa). The squamotympanic fissure separates the fossa from the tympanic bone. The joint is a ginglymoarthrodial joint with hinge and transverse movements. The key supporting ligament of the TMJ is the temporomandibular ligament. The boundaries of the glenoid fossa are as follows:
| Anterior: | Margins of the articular eminence |
| Posterior: | Squamosotympanic fissure |
| Lateral: | Zygomatic process of the temporal bone |
| Medial: | Temporal spine |
The TMJ derives its nourishment from the synovial membrane, which is richly vascularized and produces a mucinous-like substance. The joint has a gliding motion between the meniscus and the temporal bone (upper compartment). It has a hinge motion between the disk and the condyle (lower compartment). It is innervated by the auriculotemporal nerve, masseter nerve, lateral pterygoid nerve, and temporal nerve. It is supplied by the superficial temporal artery and the anterior tympanic branch of the internal maxillary artery. The lateral pterygoid muscle protracts the jaw, and the masseter, medial pterygoid, and temporalis muscles act as elevators. All these muscles are innervated by V3. The sphenomandibular and stylomandibular ligaments have no function in TMJ articulation.
This is a familial syndrome characterized by adenoid facies, hypoplasia of the mandible and maxilla, high-arched palate, hypoplasia of the soft palate and uvula, microstomia, papillomatosis of the lips and pharynx, scrotal tongue, multiple thyroid adenomas, bilateral breast hypertrophy, pectus excavatum, and liver and CNS abnormalities.
Creutzfeldt-Jakob disease is a rare spongiform encephalopathy. Constitutional symptoms lead to mental retardation and movement disorder.
Cri du Chat syndrome is a condition caused by a B group chromosome with a short arm; its symptoms are mental retardation, respiratory stridor, microcephaly, hypertelorism, midline oral clefts, and laryngomalacia with poor approximation of the posterior vocal cords.
See Chapter 17.
Curtius syndrome is a form of hypertrophy that may involve a single small part of the body or an entire system (ie, muscular, nervous, or skeletal systems). It is also known as congenital hemifacial hypertrophy.
Oscillopsia or jumbling of the panorama common in patients after bilateral labyrinthectomy is characteristic of this syndrome. These patients are unable to focus while walking or moving.
Autosomal dominant, this skin disorder of the external auditory canal is characterized by keratotic debris in the canal. Some investigators have advocated the use of vitamin A or steroids.
Exophthalmos, diplopia, superior maxillary pain, and numbness along the route of the trigeminal nerve are found with lesions of the orbital floor in this syndrome.
This syndrome is evidenced by thrombosis of the anterior spinal artery, resulting in either an alternating hypoglossal hemiplegia or an alternating hypoglossal hemianesthetic hemiplegia.
Demarquay-Richter syndrome is a congenital orofacial disorder characterized by cleft lip, cleft palate, lower lip fistulas, and progeria facies. Defective dentition, heart defects, dwarfism, and finger abnormalities may be seen.
DIDMOAD syndrome is an autosomal recessive disorder associating diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes mellitus is usually juvenile in onset and insulin dependent. The diabetes insipidus has a varied time of onset and is vasopressin sensitive, indicative of degeneration of the hypothalamic cells or of the supraopticohypophyseal tract. The hearing loss is sensorineural and progressive, and primarily affects the higher tones. Urinary tract abnormalities ranging from atonic bladder to hydronephrosis and hydroureter have been reported with this disorder.
Lischaneri reported three categories of this syndrome:
Third and fourth pharyngeal pouch syndrome, characterized by cardiovascular and craniofacial anomalies as well as abdominal visceral abnormalities
DiGeorge syndrome (thymus agenesis)
Partial DiGeorge syndrome (thymic hypoplasia in which the thymus gland weighs less than 2 g)
The patients have small malformed pinnae with narrow external auditory canals and abnormal ossicles. The patients also have shortened cochlea of the Mondini type as well as an absence of hair cells in the hook region, hypertelorism with nasal cleft, shortened philtrum, and micrognathia. Other middle ear anomalies include an absence of stapedial muscle, hypoplastic facial nerve, and absent oval window. Most of the findings are symmetrical.
See section on trisomy in Chapter 17.
Dysphagia lusoria is secondary to an abnormal right subclavian artery. The right subclavian arises abnormally from the thoracic aorta by passing behind or in front of the esophagus, thus compressing it.
The patient has elongation of the styloid process or ossification of the stylohyoid ligament causing irritation of the trigeminal, facial, glossopharyngeal, and vagus nerves. Symptoms include recurrent nonspecific throat discomfort, foreign body sensation, dysphagia, facial pain, and increased salivation. Carotidynia may result from impingement of the styloid process on the carotid artery, producing regional tenderness or headaches. The only effective treatment for Eagle syndrome is surgical shortening of the styloid process.
See Chapter 17.
This syndrome consists of hypodontia, hypotrichosis, and hypohidrosis. Principally, the structures involved are of ectodermal origin. Eyelashes and especially eyebrows are entirely missing. Eczema and asthma are common. Aplasia of the eccrine sweat glands may lead to severe hyperpyrexia. The inheritance is X-linked recessive.
This syndrome consists of psychomotor retardation, hypotonia, short stature, microcephaly, hypoplastic midface, epicanthus, ophthalmologic abnormalities, cleft palate, congenital heart disease, abnormalities of the genitalia, tapered fingers, aural atresia, and conductive hearing loss.
Numbness and weakness in the extremities; paralysis of the lips, tongue, and palate; and dysarthria are evidenced.
Extension of the palpebral fissure laterally, displacement of the lateral canthus, ectropion of the lower lid, and lateral canthus are observed. Hypertelorism, cleft palate, and cleft lip are frequently seen.
The patient has an enlarged sella, giving the appearance of a pituitary tumor. An air encephalogram shows an empty sella. The syndrome consists of the abnormal extension into the sella turcica of an arachnoid diverticulum filled with CSF, displacing and compressing the pituitary gland. Four causal theories of this syndrome exist: (1) rupture of an intrasellar or parasellar cyst; (2) infarction of a pituitary adenoma; (3) pituitary hypertrophy and subsequent involution; and (4) the most common theory, the syndrome is due to CSF pressure through a congenitally deficient sella diaphragm leading to the formation of an intrasellar arachnoidocele. A trans-septal or trans-sphenoidal route to the sella is a treatment to consider.
The primary empty sella syndrome is due to congenital absence of the diaphragm sella, with gradual enlargement of the sella secondary to pulsations of the brain. Secondary empty sella syndrome may be due to necrosis of an existing pituitary tumor after surgery, postirradiation directed at the pituitary, or pseudotumor cerebri.
Face-hand syndrome is a reflex sympathetic dystrophy that is seen after a stroke or myocardial infarction. There may be edema and erythema of the involved parts along with persistent burning.
Patients have aplastic anemia with skin pigmentation, skeletal deformities, renal anomalies, and mental retardation. Death due to leukemia usually ensues within 2 years. The disorder rarely occurs in adults. (A variant is congenital hypoplastic thrombocytopenia, which is inherited as an autosomal recessive trait.) It is characterized by spontaneous bleeding and other congenital anomalies. The bleeding time is prolonged, the platelet count is decreased, and the bone marrow megakaryocytes vary from decreased to absent.
It is associated with unrepaired chromosome breakage. Congenital anomalies of the inner, middle, and external ear could be causes of the deafness that accompanies this syndrome.
Felty syndrome is a combination of leukopenia, arthritis, and enlarged lymph nodes and spleen.
First bite syndrome is characterized by facial pain, severe cramping in the parotid region with the first bite of each meal. The pain and spasm diminishes with subsequent bites. The etiology is unknown but may be related to deep lobe parotid or infratemporal fossa lesion or surgery. Treatment included tegretal (carbamazepine), gabapentinoids (calcium channel blockers), amitriptyline (tricyclic antidepressants and anticholinergic). But there is no conclusive evidence as to the effects of these treatments.
This disorder consists of a spectrum of craniofacial malformations characterized by asymmetric facies with unilateral abnormalities. The mandible is small with hypoplastic or absent ramus and condyle. Aural atresia, hearing impairment, tissue tags from the tragus to the oral commissure, coloboma of the upper eyelid, malar hypoplasia, and cleft palate also may be present. Cardiovascular, renal, and nervous system abnormalities have been noted in association with this disorder.
Clinical symptoms of this peculiar syndrome consist of a fish odor emanating from the mucus, particularly in the morning. A challenge test with either choline bitartrate or trimethylamine is diagnostic of this disease. Eating non–choline-containing foods usually helps. No long-term effects are known.
Fordyce disease is characterized by pseudocolloid of the lips, a condition marked by the presence of numerous, small yellowish-white granules on the inner surface and vermilion border of the lips. Histologically, the lesions appear as ectopic sebaceous glands.
Patients with this disorder show ipsilateral optic atrophy and scotomas and contralateral papilledema occurring with tumors or other lesions of the frontal lobe or sphenoidal meningioma. Anosmia may be seen.
The combination of tic douloureux and anginose scarlatina is characteristic of this disease.
Facial paralysis with ipsilateral paralysis of conjugate gaze and contralateral pyramidal hemiplegia are diagnostic. Tinnitus, deafness, and vertigo may occur with infranuclear involvement. Loss of taste of the anterior two-thirds of the tongue with decreased salivary and lacrimal secretions is seen with involvement of the nervus intermedius.
In the normal person, the sweat glands are innervated by sympathetic nerve fibers. After parotidectomy, the auriculotemporal nerve sends its parasympathetic fibers to innervate the sweat glands instead. The incidence of Frey syndrome after parotidectomy in children has been estimated to be about 20%.
Also called preauricular gustatory sweating, parotidectomy is considered the most common etiology.
The disease consists of facial hemihypertrophy involving the eyelids, cheeks, lips, facial bones, tongue, ears, and tonsils. It may be seen alone or in association with generalized hemihypertrophy.
Paralysis of cranial nerves III through X, usually unilateral or occasionally bilateral, is observed. It may be the result of invasion by neoplasm, granulomas, or infections in the retropharyngeal space.
Gard-Gignoux syndrome involves paralysis of the 11th and 10th nerves below the nodose ganglion. The cricothyroid function and sensation are normal. The symptoms include vocal cord paralysis and weakness of the trapezius and sternocleidomastoid muscles.
Gardner syndrome is an autosomal dominant disease whose symptoms include fibroma, osteoma of the skull, mandible, maxilla, and long bones, with epidermoid inclusion cysts in the skin and polyps in the colon. These colonic polyps have a marked tendency toward malignant degeneration.
See Chapter 17.
As an autosomally recessive inherited disorder of lipid metabolism, this syndrome results in a decrease in activity of the glucocerebrosidase. This leads to an increased accumulation of glucocerebrosides, particularly in the retroendothelial system. There are three classifications of the disease: (1) the chronic non-neuronopathic form, characterized by joint pain, aseptic necrosis, pathologic fractures, hepatosplenomegaly, thrombocytopenia, anemia, and leukopenia; (2) the acute neuronopathic Gaucher disease (infantile form), causing increased neurologic complications that often end in death before the first 2 years of life; and (3) the juvenile and less severe forms than the infantile form.
With the presence of vertigo and kubisagari, it is observed among cowherds. It is marked by pain in the head and neck with visual disturbances, ptosis, and generalized weakness of the muscles.
Giant apical air cell syndrome, first described in 1982, consists of giant apical air cells, spontaneous CSF rhinorrhea, and recurrent meningitis. It is caused by the constant pounding of the brain against the dura overlying the giant apical air cell, which leads to dural rupture and CSF leak.
Characterized by chorea, coprolalia, and tics of the face and extremities, it affects children (usually boys 5-10 years old). Repetitive facial grimacing, blepharospasms, and arm and leg contractions may be present. Compulsive grunting noises or hiccupping subsequently become expressions of frank obscenities.
A rare, nonhereditary congenital variant of hemifacial microsomia, Goldenhar syndrome is a congenital syndrome of the first and second arch. It is characterized by underdevelopment of craniofacial structures, vertebral malformations, and cardiac dysfunction. Clinical features of this syndrome are malar and maxillary hypoplasia, poor formation of external auditory canal, supernumerary ear tags and antetragal pits, orbit, enlarged mouths, renal anomalies, and missing growth centers in the condyle, causing delayed eruption of teeth and teeth crowding. Intelligence is usually normal or mildly retarded. Maxillofacial reconstruction in young patients demands consideration of future growth and development. It is also recommended for psychologic reasons as well as reasons involving the proper expansion of the skin that will later aid in further reconstruction. This syndrome is not to be confused with Treacher Collins, Berry, or Franceschetti-Zwahlen-Klein syndromes. These tend to show well-defined genetic patterns (irregular but dominant), whereas Goldenhar syndrome does not.
This syndrome is characterized by inflammatory cells, lymphocytes, plasma cells, and reticular cells.
Gradenigo syndrome is due to an extradural abscess involving the petrous bone. The symptoms are suppurative otitis, pain in the eye and temporal area, abducens paralysis, and diplopia.
Grisel syndrome, also known as nasopharyngeal torticollis, is the subluxation of the atlantoaxial joint and is usually associated with children. It is associated with pharyngitis, nasopharyngitis, adenotonsillitis, tonsillar abscess, parotitis, cervical abscess, and otitis media. This syndrome has been known to occur after nasal cavity inflammation, tonsillectomy, adenoidectomy, mastoidectomy, choanal atresia repair, and excisions of a parapharyngeal rhabdomyosarcoma. Proposals for etiology include overdistention of the atlantoaxial joint ligaments by effusion, rupture of the transverse ligament, excessive passive rotation during general anesthesia, uncoordinated reflex action of the deep cervical muscles, spasm of the prevertebral muscles, ligamentous relaxation from decalcification of the vertebrae, and weak lateral ligaments. Clinical features include spontaneous torticollis in a child, a flexed and rotated head with limited range of motion, flat face, and Sudeck sign (displacement of the spine of the axis to the same side as the head is turned). Treatment includes skeletal skull traction under fluoroscopic control to realign the odontoid process within the transverse ligament sling, followed by 6 to 12 weeks of immobilization. Timely treatment is usually successful.
Guillain-Barré syndrome is infectious polyneuritis of unknown etiology (“perhaps” viral) causing marked paresthesias of the limbs, muscular weakness, or a flaccid paralysis. CSF protein is increased without an increase in cell count.
Hallermann-Streiff syndrome consists of dyscephaly, parrot nose, mandibular hypoplasia, proportionate nanism; hypotrichosis of scalp, brows, and cilia; and bilateral congenital cataracts. Most patients exhibit nystagmus or strabismus. There is no demonstrable genetic basis.
A form of facial dysmorphia, Hanhart syndrome is characterized by (1) bird-like profile of face caused by micrognathia, (2) opisthodontia, (3) peromelia, (4) small growth, (5) normal intelligence, (6) branchial arch deformity resulting in conductive hearing loss, (7) tongue deformities and often a small jaw, and (8) possibly some limb defects as well. Ear surgery should be carefully considered because of the abnormal course of the facial nerve due to this syndrome.
In Heerfordt syndrome, the patient develops uveoparotid fever. Heerfordt syndrome is a form of sarcoidosis (see Chapter 12).
Hick syndrome is a rare condition characterized by a sensory disorder of the lower extremities, resulting in perforating feet and by ulcers that are associated with progressive deafness due to atrophy of the cochlear and vestibular ganglia.
Hippel-Lindau disease consists of angioma of the cerebellum, usually cystic, associated with angioma of the retina and polycystic kidneys.
With Hollander syndrome, there is appearance of a goiter during the third decade of life related to a partial defect in the coupling mechanism in thyroxine biosynthesis. Deafness due to cochlear abnormalities is usually related to this.
Homocystinuria is a recessive hereditary syndrome secondary to a defect in methionine metabolism with resultant homocystinemia, mental retardation, and sensorineural hearing loss.
The presenting symptoms of Horner syndrome are ptosis, miosis, anhidrosis, and enophthalmos due to paralysis of the cervical sympathetic nerves.
Patients have unilateral headaches centered behind or close to the eye accompanied or preceded by ipsilateral nasal congestion, suffusion of the eye, increased lacrimation and facial redness, and swelling.
Cerebellar tumor, an intention tremor that begins in one extremity gradually increasing in intensity and subsequently involving other parts of the body
Facial paralysis, otalgia, and aural herpes due to disease of both motor and sensory fibers of the seventh nerve
A form of juvenile paralysis agitans associated with primary atrophy of the pallidal system
A hereditary and sex-linked disorder, this incurable syndrome involves multiple organ systems through mucopolysaccharide infiltration. Death, usually by the second decade of life, is often caused by an infiltrative cardiomyopathy and valvular disease leading to heart failure. Physical characteristics include prominent supraorbital ridges, large flattened nose with flared nares, low-set ears, progressive corneal opacities, generous jowls, patulous lips and prognathism, short neck, abdominal protuberance, hirsutism, short stature, extensive osteoarthritis (especially in the hips, shoulders, elbows, and hands), TMJ arthritis, pseudopapilledema, and low-pressure hydrocephalus. Chondroitin sulfate B and heparitin in urine, mental retardation, beta-galactoside deficiency, and hepatosplenomegaly are also features of this syndrome. There is cerebral storage of three gangliosides: GM1, GM2, and GM3. Compressive myelopathy may result from vertebral dislocation. High spinal cord injury is a great complication in surgery. Neurologic development is often slowed or never acquired. Abdominal abnormalities, respiratory infections, and cardiovascular troubles plague the patient.
This syndrome appears to be a congenital defect in the ultrastructure of cilia that renders them incapable of movement. Both respiratory tract cilia and sperm are involved. The clinical picture includes bronchiectasis, sinusitis, male sterility, situs inversus, and otitis media. Histologically, there is a complete or partial absence of dynein arms, which are believed to be essential for cilia movement and sperm tail movement. Also no cilia movements were observed in the mucosa of the middle ear and the nasopharynx.
When there are supranuclear lesions of the fifth nerve, touching the cornea may produce a brisk movement of the mandible to the opposite side.
Cranial nerves X, XI, and XII are affected by nuclear or radicular lesion. There is ipsilateral flaccid paralysis of the soft palate, pharynx, and larynx with weakness and atrophy of the sternocleidomastoid and trapezius muscles and muscles of the tongue.
Jacod syndrome consists of total ophthalmoplegia, optic tract lesions with unilateral amaurosis, and trigeminal neuralgia. It is caused by a middle cranial fossa tumor involving the second through sixth cranial nerves.
Job syndrome is one of the groups of hyperimmunoglobulin E (hyper-IgE) syndromes that are associated with defective chemotaxis. The clinical picture includes fair skin, red hair, recurrent staphylococcal skin abscesses with concurrent other bacterial infections and skin lesions, as well as chronic purulent pulmonary infections and infected eczematoid skin lesions. This syndrome obtained its name from the Biblical passage referring to Job being smitten with boils. It is of interest to the otolaryngologist because of head and neck infections.
Cranial nerves IX, X, and XI are paralyzed, whereas XII is spared because of its separate hypoglossal canal. Horner syndrome is not present because the sympathetic chain is below the foramen. This syndrome is most often caused by lymphadenopathy of the nodes of Krause in the foramen. Thrombophlebitis, tumors of the jugular bulb, and basal skull fracture can cause the syndrome. The glomus jugulare usually gives a hazy margin of involvement, whereas neurinoma gives a smooth, sclerotic margin of enlargement. The jugular foramen is bound medially by the occipital bone and laterally by the temporal bone. The foramen is divided into anteromedial (pars nervosa) and posterolateral (pars vascularis) areas by a fibrous or bony septum. The medial area transmits nerves IX, X, and XI as well as the inferior petrosal sinus. The posterior compartment transmits the internal jugular vein and the posterior meningeal artery. The right foramen is usually slightly larger than the left foramen.
Kallmann syndrome consists of congenital hypogonadotropic eunuchoidism with anosmia. It is transmitted via a dominant gene with variable penetrance.
Patients have multiple idiopathic, hemorrhagic sarcomatosis particularly of the skin and viscera. Radiotherapy is the treatment of choice.
The symptoms are complete situs inversus associated with chronic sinusitis and bronchiectasis. It is also called the Kartagener triad.
Cilia and flagella of a patient lack normal dynein side arms of ciliary A-tubes. Deficient mucociliary transport causes sterility in both sexes.
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