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Otopalatodigital syndrome type II associated with
omphalocele: report of three cases.

Young K, Barth CK, Moore C, Weaver DD.

Department of Medical and Molecular Genetics, University of Indiana School of Medicine,
Indianapolis 46202-5251.

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.

PMID: 8465856 [PubMed - indexed for MEDLINE]