Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay

Eur J Obstet Gynecol Reprod Biol. 1999 Aug;85(2):173-7. doi: 10.1016/s0301-2115(99)00021-4.

Abstract

Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Craniofacial Abnormalities / etiology
  • De Lange Syndrome / complications*
  • De Lange Syndrome / diagnosis
  • Female
  • Fetal Growth Retardation / etiology*
  • Gestational Age
  • Growth Disorders / etiology*
  • Hirsutism / etiology
  • Humans
  • Intellectual Disability / etiology
  • Limb Deformities, Congenital
  • Male
  • Pregnancy
  • Ultrasonography, Prenatal