DIAPHRAGMATIC-HERNIA, EXOMPHALOS, ABSENT CORPUS-CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS - A NEWLY RECOGNIZED AUTOSOMAL RECESSIVE DISORDER

We describe unrelated male and female patients with an identical syndr ome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of th e corpus callosum, severe sensorineural deafness, and severe myopia. O ne child had an iris coloboma. After the birth of the first affected c hild in each family subsequent pregnancies were monitored with ultraso und scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinc t, previously unreported syndrome with likely autosomal recessive inhe ritance. (C) 1993 Wiley-Liss, Inc.