Congenital Disorders



Congenital Disorders


Christopher S. Song

Ari J. Goldsmith



Congenital disorders seen by otolaryngologists appear as disturbances of form and function. The spectrum ranges from respiratory distress at birth to subtle changes in appearance or communication noticed by the primary care physician or parent. Although a child with a congenital disorder is at risk for a variety of otolaryngologic problems, treatment frequently involves a multidisciplinary approach. Congenital disorders may be divided into genotypic and phenotypic abnormalities. Genotypic abnormalities may be caused by a single gene mutation such as a point mutation or dislocation or by a chromosomal abnormality such as trisomy 21. Phenotypic abnormalities are morphologic defects that may be further classified by type and pattern.

Types of phenotypic abnormalities include malformations, deformations, and disruptions. Malformations are caused by an abnormal developmental process, such as incomplete morphogenesis (e.g., cleft lip and cleft palate). Malformations initiated earlier in organogenesis produce more severe results than those occurring later. Deformations are abnormal forms or positions of a portion of the body. They generally are caused by restricted fetal movement from intrauterine mechanical forces (e.g., congenital torticollis and clubfoot associated with oligohydramnios). Deformations usually occur late in development and may improve postnatally when the mechanical restriction is eliminated. Disruptions are morphologic defects caused by intrauterine interference with an otherwise normally developing organ or region of the body (e.g., phocomelia associated with thalidomide use). Disruptions usually are sporadic.

Patterns of phenotypic abnormalities include sequences, syndromes, and associations. Sequences result from one primary developmental defect that causes a chain of secondary anomalies that may lead to another group of defects. For example, in Robin sequence the hypoplastic mandible (primary defect) prevents the tongue from descending. This prevents closure of the palatal shelves and causes cleft palate (secondary defect). Syndromes are groups of multiple anomalies (malformations or sequences) thought to be pathogenetically related but not represented by a single sequence (e.g., Down syndrome). Associations are nonrandom clusterings of anomalies that are not known to be a sequence or a syndrome. CHARGE and VATER associations are well recognized by otolaryngologists (Table 43-1).

There are many otolaryngologic manifestations of congenital anomalies. These may be classified anatomically as craniofacial, aural, nasal, oropharyngeal, laryngeal, and cervical. Some of the more common disorders and their management can be seen in Table 43-2.











TABLE 43-1. Patterns of phenotypic abnormalities








































































































































Primary anomaly


Craniofacial anomalies


Associated anomalies


Genetics


Hearing loss


Apert syndrome


Midface hypoplasia


Hypoplastic maxilla, frontal prominence, proptosis


Syndactyly, MR


Dominant


Flat CHL; fixed stapes


Crouzon syndrome


Midface hypoplasia


Hypoplastic maxilla, parrot nose, hypertelorism, proptosis, ± atretic EAC



Dominant


1/3 HL; ± mixed HL


Treacher Collins, 1st and 2nd branchial arch


Mandible and maxillary hypoplasia


Fishmouth, antimongoloid eyelids, EAC atresia, auricular deformities


Normal IQ


Dominant/injury in utero


CHL, malformed incus, malleus, nL stapes


Goldenhar (hemifacial microsomia) syndrome


Unilateral mandible and zygoma hypoplasia


Preauricular appendages, unilateral underdeveloped facial muscles


Colobomas, epibulbar dermoids


Recessive


CHL


Robin sequence


Mandibular hypoplasia


Glossoptosis, micrognathia, malformed auricle


Mobius syndrome, MR, ± subglottic stenosis


Dominant, ± penetrance


Mixed HL


Shprintzen syndrome (velocardiofacial)


3rd and 4th pharyngeal pouch anomalies


Cleft palate, hypertelorism with nasal cleft, micrognathia, small ears, and EAC


Thymic agenesis (DiGeorge), hypoparathyroidism, cardiac anamolies


Dominant, or random, 22q11 deletion


Mixed HL, abnormal ossicles, shortened cochlea


Osteogenesis imperfecta/van der Hoeve syndrome


Abnormal osteoblastic activity


Blue sclera


Fragile bones


Dominant, ± expressivity


CHL, otosclerosis, ± floating footplate


Waardenburg syndrome


Abnormal tyrosine metabolism


Wide eyes, white forelock, one brow, patchy skin



Dominant, ± penetrance


SNHL ± AU


Alport syndrome


HL + nephritis



Progressive nephritis, worse in males


Dominant (not sex linked)


Progressive SNHL, worse in males, vestibular dysfunction


Pendred syndrome


Faulty tyrosine iodination


Euthyroid goiter


Nl petrous pyramid, Nl IQ


Recessive


U-shaped audiogram


Jervell Lange-Nielsen syndrome




Prolonged QT on EKG, recurrent syncope


Recessive


Profound SNHL


Usher syndrome


HL + blindness


Retinitis pigmentosa, progressive blindness



Recessive (type IV = X linked)


SNHL vestibular dysfunction


Down syndrome



Mongoloid eyes, flat occiput, small EAC


MR, C1-C2 laxity, narrow subglottis


Trisomy 21


Mobius syndrome



Facial diplegia, tongue and eye paralysis


MR, ± missing feet/hands


?


Mixed HL


Charge (association)



Coloboma, heart defects, choanal atresia, retarded growth, genital hypoplasia, ear anomalies



Sporadic


Mixed HL


Vater (association)



Vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial and renal dysplasia



Random


Hurler syndrome


Mucopolysaccharidosis


Gargoyle facies


MR, dwarfism, kyphosis corneal kyphosis, corneal clouding


Recessive


Hunter syndrome


Mucopolysaccharidosis


Gargoyle facies, prominent brow, lowset ears, prognathism


Less severe skeletal changes vs. Hurler’s


X linked



AU, boh ears; CHL, conductive hearing loss; EAC, external auditory canal; HL, hearing loss; MR, mental retardation; Nl, normal; SNHL, sensorineural hearing loss.










TABLE 43-2. Management of common otolaryngologic manifestations of congenital disorders



















































Congenital disorder


Otolaryngologic impairment


Potential intervention


Craniofacial synostosis


Airway obstruction


Tonsillectomy, adenoidectomy, mandibular osteotomy, tracheostomy


Craniofacial dysostosis


Airway obstruction


Tracheostomy


Cleft palate


Airway obstruction


Positioning, McGovern nipple, nasopharyngeal airway, tracheostomy


Cleft palate


Eustachian tube dysfunction


Tympanostomy (ventilating) tubes, tympanoplasty


Robin sequence


Airway obstruction


Positioning, McGovern nipple, nasopharyngeal airway, lip to tongue adhesion, tracheostomy


Choanal atresia


Airway obstruction


McGovern nipple, transpalatal or endonasal surgical repair


Lop ear


Cosmetic, psychosocial


Otoplasty


Microtia auricle


Cosmetic, functional


Staged surgical reconstruction with rib graft, prosthetic


Atresia of ear canal


Conductive hearing loss


Canalplasty, middle ear exploration, ossicular reconstruction, hearing aid


Laryngomalacia


Airway obstruction


Watchful waiting, laser laryngoplasty (epiglottoplasty), tracheostomy (rare)


Laryngeal papilloma


Airway obstruction, hoarseness


Repeated laser excision, tracheostomy (avoid if possible to prevent spread)

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Aug 2, 2016 | Posted by in OTOLARYNGOLOGY | Comments Off on Congenital Disorders

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