title: Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
abstract: We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance.
authors.affiliation: Regional Genetic Service, St Mary's Hospital, Manchester, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: M
authors.initials: M
authors.lastname: Barrow
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008297:Male; D009216:Myopia / Q000235:genetics*; D013577:Syndrome