Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele.
We describe an infant with a unique combination of a severe craniofacial dysostosis and a very distinctive facies, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies. We propose that this represents a "new" syndrome of multiple congenital abnormalities.
Gardner
R J
RJ
Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.
Morrison
P S
PS
Faigan
L A
LA
Kennedy
J C
JC
Fitzgerald
P H
PH
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006554:Hernia, Umbilical / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities