A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.
Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on a 3-year-old boy with severe PFFD, who showed almost completely absent femora and fibulae, malformed pelvis and ectrodactyly of the left foot. These features were partially overlapped with those of Al-Awadi-Raas-Rothschild syndrome or Fuhrmann syndrome, both of which are caused by WNT7A mutations. Molecular analysis of our case, however, demonstrated no disease-causing mutations in the WNT7A gene.
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, Aichi, 466-8550, Japan.
Masaki
M
Matsushita
Hiroshi
H
Kitoh
Kenichi
K
Mishima
Yoshihiro
Y
Nishida
Naoki
N
Ishiguro
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000568:Amenorrhea / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004480:Ectromelia / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005360:Fibula / Q000002:abnormalities / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010388:Pelvis / Q000002:abnormalities / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D014599:Uterus / Q000002:abnormalities*