Young K, Barth C K, Moore C, Weaver D D
Department of Medical and Molecular Genetics, University of Indiana School of Medicine, Indianapolis 46202-5251.
Am J Med Genet. 1993 Feb 15;45(4):481-7. doi: 10.1002/ajmg.1320450418.
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.