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
en Inglés
| 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
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Ecocardiografía
/
Análisis Citogenético
/
Criptorquidismo
/
Cara
/
Articulación de la Rodilla
Tipo de estudio:
Informe de Casos
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Egypt. J. Med. Hum. Genet.
Año:
2006
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