Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers.
Am J Med Genet
; 52(1): 103-7, 1994 Aug 01.
Article
en En
| MEDLINE
| ID: mdl-7977451
ABSTRACT
We describe a previously unrecognized syndrome in two brothers with short stature, webbed neck, unusual face, moderate malsegmentation of the lumbar spine, and unilateral Legg-Perthes-Calvé type "disease" of the hip. Autosomal recessive inheritance is proposed, although we cannot exclude the possibility of an X-linked recessive or an autosomal dominant condition with germinal mosaicism.
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Bases de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Enanismo
/
Cara
/
Vértebras Lumbares
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1994
Tipo del documento:
Article
País de afiliación:
Finlandia