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A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
- Source :
-
Foot & ankle specialist [Foot Ankle Spec] 2012 Feb; Vol. 5 (1), pp. 37-40. Date of Electronic Publication: 2011 Sep 30. - Publication Year :
- 2012
-
Abstract
- Unlabelled: Limb development is a complex regulated development phenomenon involving multiple genes. Fibular Aplasia, Tibial Campomelia and Oligosyndactyly (FATCO) syndrome (MIM#246570) is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance. Its counterpart, Fuhrmann syndrome or Femoral-Fibularaplasia-Campomelia and Oligosyndactyly are a result of defect in the WNT7a gene located on the 3p25. Former is proposed to be a development dysplasia of defective dorso-ventral polarity assignment and distal limb development. Ectrodactyly and fibular a/hypoplasia (EFA, MIM# 113310) share the full phenotypic spectrum of FATCO syndrome, whether they are allelic disorders or represent two variable presentations in the spectrum of the same disorder is not an established fact. We report here one Indian patient with findings of FATCO syndrome with associated Klinefelter syndrome. This is the first such report which is likely to be a co-incidental finding and has implications for genetic counseling.<br />Levels of Evidence: Therapeutic, Level IV.
- Subjects :
- Abnormalities, Multiple genetics
Fibula diagnostic imaging
Genetic Predisposition to Disease
Hand Deformities, Congenital diagnosis
Hand Deformities, Congenital diagnostic imaging
Hand Deformities, Congenital genetics
Humans
Infant
Male
Musculoskeletal Abnormalities diagnosis
Musculoskeletal Abnormalities diagnostic imaging
Musculoskeletal Abnormalities genetics
Radiography
Rare Diseases
Risk Assessment
Syndactyly diagnostic imaging
Syndactyly genetics
Syndrome
Tibia diagnostic imaging
Abnormalities, Multiple diagnosis
Fibula abnormalities
Klinefelter Syndrome diagnosis
Syndactyly diagnosis
Tibia abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1938-7636
- Volume :
- 5
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Foot & ankle specialist
- Publication Type :
- Academic Journal
- Accession number :
- 21965580
- Full Text :
- https://doi.org/10.1177/1938640011422594