Acrania: a manifestation of the Adams-Oliver syndrome

Am J Med Genet. 1992 Nov 15;44(5):562-6. doi: 10.1002/ajmg.1320440506.

Abstract

A 10-year-old male with acrania, distal limb anomalies, and abnormal arterial and venous cranial blood vessels is reported. Parental films and examination are normal. This case supports the hypothesis that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. It is proposed that the diagnosis of acrania requires assessment of both parents and proband to assess other manifestations of vascular disruption in order to provide accurate genetic counselling.

Publication types

  • Case Reports

MeSH terms

  • Angiography
  • Child
  • Ectodermal Dysplasia / diagnostic imaging
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Humans
  • Male
  • Skull / abnormalities*
  • Skull / blood supply
  • Skull / diagnostic imaging
  • Syndrome
  • Toes / abnormalities*
  • Toes / diagnostic imaging