Literature DB >> 8465856

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

K Young1, C K Barth, C Moore, D D Weaver.   

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.

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Year:  1993        PMID: 8465856     DOI: 10.1002/ajmg.1320450418

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Association of mutations in FLNA with craniosynostosis.

Authors:  Nathalie Fennell; Nicola Foulds; Diana S Johnson; Louise C Wilson; Michelle Wyatt; Stephen P Robertson; David Johnson; Steven A Wall; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2015-04-15       Impact factor: 4.246

  1 in total

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