Adams-Oliver sendromu:

Giray Bozkaya Ö., Duman N., Bora E., Ülgenalp A., Erçal M. D., Özkan H.

Çocuk Sağlığı ve Hastalıkları, cilt.47, ss.123-127, 2004 (Hakemli Dergi)

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 47
  • Basım Tarihi: 2004
  • Dergi Adı: Çocuk Sağlığı ve Hastalıkları
  • Sayfa Sayıları: ss.123-127
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.