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)

Only gold members can continue reading. Log In or Register to continue

Stay updated, free articles. Join our Telegram channel

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

Full access? Get Clinical Tree

Get Clinical Tree app for offline access