Otopalatodigital syndrome type II associated with omphalocele: Report of three cases

K. Young, C. K. Barth, C. Moore, D. D. Weaver

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)481-487
Number of pages7
JournalAmerican journal of medical genetics
Volume45
Issue number4
DOIs
StatePublished - Feb 3 1993

Keywords

  • midline defect
  • omphalocele
  • prenatal diagnosis
  • skeletal dysplasia
  • X-linked recessive

ASJC Scopus subject areas

  • Genetics(clinical)

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