title: A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
abstract: 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.
  
  
  METHODS
  Therapeutic, Level IV.
authors.affiliation: Christian Medical College, Vellore, Tamilnadu, India. genius_doc@rediffmail.com
authors.forename: Alka V
authors.initials: AV
authors.lastname: Ekbote
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D020022:Genetic Predisposition to Disease; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000175:diagnosis*; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D035583:Rare Diseases; D018570:Risk Assessment; D013576:Syndactyly / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging