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
Dans Anglais
| 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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Indice:
Méditerranée orientale
Sujet Principal:
Échocardiographie
/
Analyse cytogénétique
/
Cryptorchidie
/
Face
/
Articulation du genou
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Egypt. J. Med. Hum. Genet.
Année:
2006
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