Omphalocele in an infant with Cornelia de Lange syndrome.
Cornelia de Lange syndrome is a genetic condition characterized by a very distinctive facial appearance, hirsutism, limb anomalies, growth retardation and developmental delay. Most cases occur sporadically as the result of a new autosomal dominant mutation, but there are also reports of parent to child transmission. Associated clinical features that are less frequent are quite well known in this very well described genetic syndrome. Omphalocele does not appear to ever have been reported to be an associated feature. We report, for the first time, an omphalocele in a molecularly confirmed case of Cornelia de Lange syndrome.
Lemire
Edmond G
EG
Division of Medical Genetics, Royal University Hospital, Saskatoon, SK, Canada.
D018797:Cell Cycle Proteins; D004247:DNA / Q000235:genetics; D003635:De Lange Syndrome / Q000150:complications* / Q000235:genetics; D006554:Hernia, Umbilical / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D011506:Proteins / Q000235:genetics
D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins; D004247:DNA