Back to Search
Start Over
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.
- Source :
-
Pediatric radiology [Pediatr Radiol] 2014 Dec; Vol. 44 (12), pp. 1617-9. Date of Electronic Publication: 2014 May 18. - Publication Year :
- 2014
-
Abstract
- 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.
- Subjects :
- Abnormalities, Multiple genetics
Amenorrhea complications
Amenorrhea genetics
Child, Preschool
Diagnosis, Differential
Ectromelia complications
Ectromelia genetics
Femur diagnostic imaging
Fibula abnormalities
Fibula diagnostic imaging
Foot Deformities, Congenital complications
Foot Deformities, Congenital genetics
Foot Deformities, Congenital surgery
Hand Deformities, Congenital complications
Hand Deformities, Congenital genetics
Humans
Male
Pelvic Bones diagnostic imaging
Pelvis abnormalities
Pelvis diagnostic imaging
Phenotype
Radiography
Abnormalities, Multiple diagnostic imaging
Amenorrhea diagnostic imaging
Ectromelia diagnostic imaging
Femur abnormalities
Foot Deformities, Congenital diagnostic imaging
Hand Deformities, Congenital diagnostic imaging
Pelvic Bones abnormalities
Uterus abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1432-1998
- Volume :
- 44
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Pediatric radiology
- Publication Type :
- Academic Journal
- Accession number :
- 24839142
- Full Text :
- https://doi.org/10.1007/s00247-014-3013-1