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Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development., (Copyright © 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

Adams-Oliver syndrome is a rare congenital anomaly characterized by aplasia cutis congenita (ACC) and variable degrees of terminal transverse limb defects. We report on a neonatal case with the sporadic form of the disease with minimal expression, illustrating the wide spectrum of clinical expression in Adams-Oliver syndrome. We also review the literature and highlight the different pathogenetic hypotheses of this syndrome., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)