title: A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies.
abstract: 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.
authors.affiliation: Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.
authors.forename: Hacer
authors.initials: H
authors.lastname: Ergin
authors.forename: C Nur
authors.initials: CN
authors.lastname: Semerci
authors.forename: Mevlüt
authors.initials: M
authors.lastname: Bican
authors.forename: Füsun
authors.initials: F
authors.lastname: Düzcan
authors.forename: A Baki
authors.initials: AB
authors.lastname: Yagci
authors.forename: Kadri Murat
authors.initials: KM
authors.lastname: Erdogan
authors.forename: A Cevik
authors.initials: AC
authors.lastname: Tufan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D003456:Cryptorchidism; D004480:Ectromelia; D005269:Femur / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities*; D005801:Genes, Homeobox / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007021:Hypospadias; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009154:Mutation
chemical_list: D018398:Homeodomain Proteins; C097899:homeobox protein HOXA9