伴有脐膨出的II型耳腭指综合征：三例报告
Otopalatodigital syndrome type II associated with omphalocele: report of three cases.
作者信息
Young K, Barth C K, Moore C, Weaver D D
机构信息
Department of Medical and Molecular Genetics, University of Indiana School of Medicine, Indianapolis 46202-5251.
出版信息
Am J Med Genet. 1993 Feb 15;45(4):481-7. doi: 10.1002/ajmg.1320450418.
PMID:8465856
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.
摘要
我们报告了3例患有II型耳腭指（OPD）综合征并伴有脐膨出的患者；其中2例为兄弟。目前已知有6例I型或II型OPD合并脐膨出的病例。我们认为这种组合并非偶然，并讨论了可能导致OPD、脐膨出及其他中线缺陷合并出现的机制。
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