These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.
    Author: Amor DJ, Leventer RJ, Hayllar S, Bankier A.
    Journal: Am J Med Genet; 2000 Aug 14; 93(4):328-34. PubMed ID: 10946361.
    Abstract:
    We describe cortical malformations in two siblings who also had features of Adams-Oliver syndrome (AOS, MIM 100300). The parents were first cousins and showed no signs of either disorder, suggesting autosomal recessive inheritance. Psychomotor delay was present in both sibs, and cerebral imaging was indicative of polymicrogyria (PMG). One sib had aplasia cutis congenita of the scalp and transverse limb defects, and the other had short fingers and toes and also developed lymphedema of the right leg. CNS abnormalities and lymphatic abnormalities are rare manifestations of AOS, and we suggest that these sibs have a rare variant of AOS with probable recessive inheritance.
    [Abstract] [Full Text] [Related] [New Search]