SHORT RIB-DYSPLASIA GROUP (WITH WITHOUT POLYDACTYLY) - REPORT OF A PATIENT SUGGESTING THE EXISTENCE OF A CONTINUOUS-SPECTRUM

被引：32

作者：

FRANCESCHINI, P

GUALA, A

VARDEU, MP

SIGNORILE, F

FRANCESCHINI, D

BOLGIANI, MP

机构：

[1] UNIV TURIN,ORTOPED CLIN 1,I-10126 TURIN,ITALY

[2] OSPED CHIVASSO,DIV PEDIAT,CHIVASSO,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 03期

关键词：

SHORT RIB-DYSPLASIA GROUP; MOHR SYNDROME; MAJEWSKI SYNDROME; VERMA-NAUNOFF SYNDROME; BEEMER SYNDROME; JEUNE SYNDROME;

D O I：

10.1002/ajmg.1320590316

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum, The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region. (C) 1995 Wiley-Liss, Inc.

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页码：359 / 364

页数：6

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