The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.
Am J Med Genet
; 17(2): 399-406, 1984 Feb.
Article
em En
| MEDLINE
| ID: mdl-6702893
We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Desenvolvimento Ósseo
/
Consanguinidade
/
Dedos
/
Músculos
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1984
Tipo de documento:
Article
País de publicação:
Estados Unidos