A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome

作者：Matsushita Masaki; Kitoh Hiroshi^*; Mishima Kenichi; Nishida Yoshihiro; Ishiguro Naoki

来源：Pediatric Radiology, 2014, 44(12): 1617-1619.

DOI：10.1007/s00247-014-3013-1

• Proximal focal femoral deficiency
• Al-Awadi-Raas-Rothschild syndrome
• Fuhrmann syndrome
• WNT7A
• Molecular analysis
• Radiography
• Child

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.

• 出版日期2014-12