Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

J Med Genet. 2004 Jun;41(6):e78. doi: 10.1136/jmg.2003.013904.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Bone Morphogenetic Proteins / genetics*
  • Child
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fingers / abnormalities*
  • Growth Differentiation Factor 5
  • Hand Deformities, Congenital / pathology
  • Hip / abnormalities*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Tooth Abnormalities / pathology*

Substances

  • Bone Morphogenetic Proteins
  • Growth Differentiation Factor 5