Maturational dysautonomia and facial anomalies associated with esophageal atresia: support for neural crest involvement.

Patients with esophageal atresia (EA) or choanal atresia/stenosis (CA) present with many clinical features of maturational dysautonomia (DY). Since CA and DY are considered manifestations of cephalic neurocristopathy, we tested the hypothesis that EA may also be related to faulty development of cephalic neural crest. Forty-eight patients with EA and 53 with CA were followed up to study the frequency of the facial anomalies which are regarded as the phenotypic expression of an abnormal cephalic neural crest contribution to facial embryogenesis. Forty-eight patients with EA and 51 with CA had clinical manifestations of DY. Forty-four patients with EA (91%) and 49 with CA (92%) had one or more facial anomalies. Comparing the groups, patients with EA had an increased frequency of unilateral facial anomalies of branchial arch derivatives (P < .01); those with CA had an increased frequency of anomalies of frontonasal process derivatives (P < .01). These findings support the hypothesis that EA may be related to an abnormal contribution from the cephalic neural crest. The presence of facial anomalies may facilitate the diagnosis of subclinical DY.