Femoral hypoplasia-unusual facies syndrome: femoral facial syndrome [FFS]: a recessive severe skeletal form
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (2): 251-254
em Inglês
| IMEMR
| ID: emr-76565
ABSTRACT
The femoral hypoplasia-unusual facies syndrome [FFS] is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. Autosomal dominant inheritance was described in few cases. We report a four-year old male with complete absence of both femora, not associated with other congenital anomalies except bilateral undescended testes
Buscar no Google
Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Ecocardiografia
/
Análise Citogenética
/
Criptorquidismo
/
Face
/
Articulação do Joelho
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2006
Similares
MEDLINE
...
LILACS
LIS