The Turkish Journal of Pediatrics 2006 , Vol 48 , Num 4
A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies
1Departments of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey
2Departments of Medical Biology Genetics Unit, Pamukkale University Faculty of Medicine, Denizli, Turkey
3Departments of Radiology, Pamukkale University Faculty of Medicine, Denizli, Turkey
4Departments of Histology and Embryology, Pamukkale University Faculty of Medicine, Denizli, Turkey
Ergin H, Semerci CN, Bican M, Düzcan F, Yağcı AB, Erdoğan KM, Tufan AÇ. A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. Turk J Pediatr 2006; 48: 380-382.

Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have been described in the literature. Here, we report a case of left proximal femoral focal deficiency (PFFD) together with fibular aplasia associated with left undescended testis and hypospadias. The putative embryologic mechanisms of lower limb defects and their possible association with lower urogenital tract malformations are also discussed. Keywords : proximal femoral focal deficiency (PFFD), fibular a/hypoplasia (FA/H), urogenital anomalies, Hox genes

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