Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson

Clin Dysmorphol. 2012 Jul;21(3):137-140. doi: 10.1097/MCD.0b013e328350af23.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brachydactyly / diagnosis
  • Brachydactyly / diagnostic imaging
  • Brachydactyly / genetics*
  • Exons
  • Female
  • Finger Phalanges / diagnostic imaging
  • Genetic Counseling
  • Genetic Heterogeneity
  • Hedgehog Proteins / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Italy
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Radiography
  • Toe Phalanges / diagnostic imaging

Substances

  • Hedgehog Proteins
  • IHH protein, human

Supplementary concepts

  • Brachydactyly type A1