Cocuk Sagligi ve Hastaliklari Dergisi, vol.47, no.2, pp.123-127, 2004 (Scopus)
Adams-Oliver syndrome is characterized by scalp defects with terminal transverse limb anomalies. Most reports on this syndrome demonstrate autosomal dominant pedigrees. Cutis marmorata telangiectasia congenita accompanies the syndrome in many cases. The condition exhibits a remarkable degree of variability, presenting as hemorrhagic cranial defects and/or extremity amputations or as a very mild expression. In the differential diagnosis, aplasia cutis congenita and terminal transverse extremity defects should also be investigated. Early embryonic vascular disruption appears to be the underlying pathogenetic mechanism. In this paper a case with bilateral hand and feet distal phalangeal and nail hypoplasia with occipital scalp defect is presented. The propositus was the product of her 27-year-old mother's first pregnancy. She was born at the 34th week of gestation. The child weighed 1600 g at birth and she was noted to have characteristic findings of Adams-Oliver syndrome with distal phalanx and nail hypoplasia of her hand and feet and with occipital scalp defect. Since it is a rare case in our literature, the detailed case and literature data are presented.