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

Authors
FRANCESCHINI P GUALA A VARDEU MP SIGNORILE F FRANCESCHINI D BOLGIANI MP
Citation
P. Franceschini et al., SHORT RIB-DYSPLASIA GROUP (WITH WITHOUT POLYDACTYLY) - REPORT OF A PATIENT SUGGESTING THE EXISTENCE OF A CONTINUOUS-SPECTRUM, American journal of medical genetics, 59(3), 1995, pp. 359-364
Citations number
35
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
59
Issue
3
Year of publication
1995
Pages
359 - 364
Database
ISI
SICI code
0148-7299(1995)59:3<359:SRG(WP>2.0.ZU;2-A
Abstract
We report on a patient with manifestations typical of Mohr syndrome an d of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Na umoff, Beemer, and Jeune. It seems possible that the different types o f 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 de letions of different size within the same chromosome region. (C) 1995 Wiley-Liss, Inc.