A newborn male, day of life 0, presented with respiratory distress requiring intubation. He was noted to have low set ears, micrognathia, and a cleft palate. Upon closer examination, he was also noted to have a right-sided complete aural atresia and the left canal is stenotic. His midface appeared hypoplastic and he was noted to have a cleft palate. A genetics consult was obtained and the patient was diagnosed with Treacher Collins syndrome (Figure 34-1). Surgical repair of palate was performed at 10 months of age, and a softband bone conduction device was provided in infancy for hearing habilitation. The family was counseled regarding ultimate options for reconstruction of microtia and aural atresia.
Treacher Collins syndrome in an infant with severe manifestations, as seen on lateral (A) and frontal (B) views. Note the microtia (underdeveloped pinna) and aural atresia. Severe maxillary and zygomatic hypoplasia leads to downsloping lateral canthi. This infant also has a facial pit and cleft palate. (Used with permission from Prashant Malhotra, MD.)
Congenital anomalies in the head and neck are numerous and varied. In this chapter, we provide a general approach to the diagnosis and management of children with these anomalies and then outline an anatomic approach to considering these abnormalities using some illustrative photographs of those commonly encountered or unique entities.
Consensus terminology is critical for discussion. An anomaly is a structural or functional defect, which is present at the time of birth. A malformation is a major defect that is the result of incorrect morphogenesis. A sequence is a series of defects that occur in a nonrandom fashion. A single event then leads to a series of malformations. Pierre-Robin sequence is an example of a sequence. An association is encountered when there is a tendency of some malformations to occur together more commonly than would be expected by chance, but are not considered to be a part of an established malformation syndrome. An example is the CHARGE association, which includes coloboma, heart anomaly, choanal atresia, retarded growth, genital, or ear anomalies.1
Congenital anomalies in the head and neck are common and a thorough head and neck examination is recommended.
An initial airway evaluation for signs of distress or obstruction is essential. This includes observation of retractions and desaturations, listening for stridor, stertor, as well as evaluation of the voice. Stridor is generally a higher pitched sound and can occur during inspiration, expiration, or both. Stertor sounds more like snoring and occurs on inspiration, and is more indicative of obstruction in the nasal cavity, nasopharynx, or oropharynx. A hoarse, quiet, or raspy cry may indicate vocal cord pathology such as cord immobility or mass.