RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.
Am J Med Genet
; 33(3): 346-51, 1989 Jul.
Article
em En
| MEDLINE
| ID: mdl-2801769
ABSTRACT
A new malformation syndrome is described in a pair of sibs and 3 sporadic patients. The characteristic manifestations are radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence. Recessive inheritance seems the most plausible cause. The acronym RAPADILINO syndrome is proposed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Patela
/
Rádio (Anatomia)
/
Doenças do Desenvolvimento Ósseo
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1989
Tipo de documento:
Article
País de afiliação:
Finlândia