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Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?

 

作者: L. Maldergem,   C. Wetzburger,   A. Verloes,   C. Fourneau,   Y. Gillerot,  

 

期刊: Clinical Genetics  (WILEY Available online 1992)
卷期: Volume 41, issue 1  

页码: 22-24

 

ISSN:0009-9163

 

年代: 1992

 

DOI:10.1111/j.1399-0004.1992.tb03622.x

 

出版商: Blackwell Publishing Ltd

 

关键词: blepharophimosis;camptodactyly;MCA/MR

 

数据来源: WILEY

 

摘要:

Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome. Clin Genet 1992:41: 22–24.A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W‐shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan‐Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden‐Walker syndrome and Tel‐Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme pheno‐typic variant of one of the above‐me

 

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