Prenatal diagnosis of type A1 brachydactyly

Ultrasound Obstet Gynecol. 2001 Jun;17(6):529-30. doi: 10.1046/j.1469-0705.2001.00428.x.

Abstract

Brachydactyly can occur as an isolated malformation or as part of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in multiple anomaly syndromes associated with hand and/or finger anomalies. In isolated type A1 brachydactyly, which is an autosomal dominant disorder, all middle phalanges of the fingers and toes are affected. We present a fetus with type A1 brachydactyly inherited from the mother and grandmother.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Congenital Abnormalities / diagnostic imaging
  • Congenital Abnormalities / genetics
  • Female
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging*
  • Follow-Up Studies
  • Foot
  • Genetic Testing*
  • Gestational Age
  • Hand
  • Humans
  • Infant, Newborn
  • Pedigree
  • Pregnancy
  • Pregnancy Outcome
  • Ultrasonography, Prenatal