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split-hand/foot malformation with long bone deficiency type 1

MIM.119100 1q42.2-q43

Thursday 1 November 2007

Definition: Autosomal dominant malformative association.

Synopsis

- limb anomalies

  • cleft hand
  • absent middle finger
  • flexed ring finger
  • absent tibia (tibial agenesis or tibial aplasia)
  • absent forearm
  • tetramonodactyly (foru limb ectrodactyly)
  • transverse hemimelia
  • hypoplastic big toes
  • cup-shaped ears
  • distal hypoplasia or bifurcation of the femurs
  • ulnar hypoplasia/aplasia
  • patellar aplasia

- cardiovascular (17159515)
- bronchopulmonary malformations (17159515)

See also

- malformative combination

References

- Lee ML, Chen M.Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations.Clin Dysmorphol. 2007 Jan;16(1):47-9. PMID: 17159515

- Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein AJ.Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.Am J Med Genet. 1999 Jun 4;84(4):361-4. PMID: 10340652