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TABLE 43-1. Patterns of phenotypic abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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TABLE 43-2. Management of common otolaryngologic manifestations of congenital disorders | ||||||||||||||||||||||||||||||||||||
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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.
