Oral-facial-digital syndromes: Review and diagnostic guidelines

The oral–facial–digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic cl...

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Veröffentlicht in:	American journal of medical genetics. Part A 2007-12, Vol.143A (24), p.3314-3323
Hauptverfasser:	Gurrieri, Fiorella, Franco, Brunella, Toriello, Helga, Neri, Giovanni
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - classification Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics alveolar ridge abnormalties animal model Animals autosomal dominant autosomal recessive Biological and medical sciences brachydactyly ciliopathies clinodactyly CNS malformations diagnostic approach Diseases of the osteoarticular system Face - abnormalities Genetics, Medical - methods Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Mice Models, Genetic molecular genetics OFD1 gene oral clefting Orofaciodigital Syndromes - classification Orofaciodigital Syndromes - diagnosis Orofaciodigital Syndromes - genetics overlapping phenotypes Phenotype phenotypic spectrum polydactyly renal anomalies syndactyly Syndrome syndrome delineation tongue anomalies transitional phenotypes X-linked dominant
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Beschreibung
Zusammenfassung:	The oral–facial–digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, 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. © 2007 Wiley‐Liss, Inc.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.32032