Research review oral-facial-digital syndromes: Review and diagnostic guidelines

被引：106

作者：

Gurrieri, Fiorella

Franco, Brunella

Toriello, Helga

Neri, Giovanni

机构：

[1] Univ Cattolica Sacro Cuore, Fac Med, Ist Genet Med, I-00168 Rome, Italy

[2] TIGEM Telethon Inst Genet & Med, Naples, Italy

[3] Spectrum Hlth Hosp, Genet Serv, Grand Rapids, MI USA

[4] Univ Naples Federico II, Naples, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 24期

关键词：

transitional phenotypes; overlapping phenotypes; syndrome delineation; phenotypic spectrum; autosomal dominant; autosomal recessive; X-linked dominant; oral clefting; alveolar ridge abnormalties; tongue anomalies; syndactyly; brachyclactyly; clinodactyly; polydactyly; CNS malformations; renal anomalies; diagnostic approach; molecular genetics; OFD1; gene; animal model; ciliopathies;

D O I：

10.1002/ajmg.a.32032

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The oral-facial-digital syndromes (OFDS) result front the pleiotropic effect of a morphogenetic impairment affecting almost invariably the rnouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed. (c) 2007 Wiley-Liss, Inc.

引用

页码：3314 / 3323

页数：10

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