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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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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