Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst.

We present a male infant with a giant omphalocele, diaphragmatic hernia, hepatic cyst, bilateral radioulnarsynostosis, absent leftthumb, and triphalangeal right thumb. History Prenatal. Polyhydramnios. Giant omphalocele shown by ultrasonography. Division of Clinical Genetics, Department of Paediatrics A, Rambam Medical Centre, PO Box 9602, 31096 Haifa, Israel. R Gershoni-Baruch Department of Neonatology, Rambam Medical Centre, Haifa, Israel. I Machoul, Y Weiss, S Blazer Correspondence to Dr Gershoni-Baruch. Received for publication 17 August 1989. Revised version accepted for publication 24 January 1990. Birth. Caesarean section because of double footling breech presentation. Apgar scores 4 and 8 at one and five minutes. Family. First child of healthy, unrelated parents. Father aged 34 years, mother aged 27 years. Medical history At birth, primary repair of the giant omphalocele failed. A prosthetic silo inserted into the abdominal wall, followed by gradual reduction of contents. Reoperated at 10 days. Intrahepatic cyst containing clear fluid unroofed. Peritoneal cavity filled with lymphatic fluid draining into the right chest through a right posterior diaphragmatic hernia. Hernia repaired and abdominal wall closed. Died two days after operation. Permission for necropsy not granted. Clinical examination Birth weight 3000 g (25th centile), length 50 cm (25th centile), head circumference 35-5 cm (50th centile). Face unusual, short, downward slanting palpebral fissures, bushy eyebrows, high nasal bridge, short Figure I Patient'sface and general appearance. .E 403 group.bmj.com on April 7, 2017 Published by http://jmg.bmj.com/ Downloaded from