Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
Am J Med Genet
; 59(3): 359-64, 1995 Nov 20.
Article
em En
| MEDLINE
| ID: mdl-8599362
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Orofaciodigitais
/
Síndrome de Costela Curta e Polidactilia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 17
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Itália