Otopalatodigital syndrome type II associated with omphalocele: report of three cases.
We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.
Young
K
K
Department of Medical and Molecular Genetics, University of Indiana School of Medicine, Indianapolis 46202-5251.
Barth
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CK
Moore
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Weaver
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D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006554:Hernia, Umbilical / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics; D010159:Palate / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014034:Toes / Q000002:abnormalities