Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.
A unique case of a female born with four major malformations, ectrodactyly, diaphragmatic hernia, ventricular septal defect, and agenesis of the corpus callosum is reported. The patient had a normal birth weight, normal head circumference and a normal karyotype. There was no significant facial dysmorphism. The family history was unremarkable for birth defects, recurrent pregnancy loss, limb anomalies or consanguinity. We propose that this represents a new constellation of multiple malformations.
Saal
H M
HM
Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229, USA.
Bulas
D I
DI
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013577:Syndrome