Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3

J Med Genet. 2001 Jun;38(6):405-9. doi: 10.1136/jmg.38.6.405.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Anodontia / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 7
  • Deafness / genetics*
  • Deafness / pathology
  • Ear, Inner / abnormalities*
  • Ear, Middle / abnormalities
  • Ectodermal Dysplasia / genetics
  • Facies
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / genetics*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Male
  • Microsatellite Repeats
  • Radiography
  • Sequence Deletion
  • Syndrome
  • Talus / abnormalities*