Brachmann-de Lange syndrome: pre- and postnatal findings

Am J Med Genet. 1996 Mar 29;62(3):268-73. doi: 10.1002/(SICI)1096-8628(19960329)62:3<268::AID-AJMG12>3.0.CO;2-I.

Abstract

Brachmann-de Lange syndrome (BDLS) is a well-delineated and relatively common syndrome. However, prenatal diagnosis has never been reported, even if in some cases ultrasonography demonstrated one or more manifestations of the syndrome. We report on 3 cases: in the first 2 cases, prenatal ultrasonography demonstrated some signs of the condition. The third represents, to our knowledge, the first prenatal diagnosis of BDLS. We also present a review of the literature concerning pre- and postnatal findings in this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Spontaneous
  • Adult
  • Arm / abnormalities*
  • Arm / diagnostic imaging
  • Arm / pathology
  • De Lange Syndrome / diagnostic imaging*
  • Female
  • Fetal Death
  • Fetal Growth Retardation / physiopathology
  • Humans
  • Male
  • Polyhydramnios / physiopathology
  • Pregnancy
  • Radiography
  • Ultrasonography, Prenatal*