The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.
Genet Couns
; 5(4): 387-92, 1994.
Article
em En
| MEDLINE
| ID: mdl-7888143
The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Crânio
/
Cromossomo X
/
Anormalidades Múltiplas
/
Ossos Faciais
/
Dedos
/
Genitália Masculina
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Suíça