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Keywords:

  • Adams–Oliver syndrome;
  • limb reduction defect;
  • cutis aplasia;
  • finger phalanges;
  • bone age measurements;
  • bone morphogenetic proteins;
  • metacarpophalangeal pattern profile

Abstract

We report on a patient with Adams–Oliver syndrome, a condition characterized by scalp and limb defects. In addition we noted in our patient a significant delay in the bone age and an abnormal distal phalanx in one of her fingers manifesting clinically as a broad finger tip. Both these features hitherto unreported add to the phenotypic spectrum of the condition. The underlying etiopathogenesis of this condition has remained in the domain of hypothesis, with none being conclusive. Based on the characteristic features of AOS and our report of delayed bone age, we postulate a role played by the bone morphogenetic protein pathway in the causation of this enigmatic condition. In the background of this postulation and the report of an unusual hand anomaly, a literature review on the various pathogenetic mechanisms and anomalies of the hand reported in AOS is presented. © 2009 Wiley-Liss, Inc.