АДАМС–ОЛИВЕРОВ СИНДРОМ – ПРИКАЗ БОЛЕСНИКА

Abstract

Introduction Adams–Oliver syndrome is characterized by congenital aplasia of the vertex skin of the skull in combination with skull and transverse limb defects.

Case Outline We presented a 5-month old female infant with Adams–Oliver syndrome manifested as cutis marmorata, dilated scalp veins and limb reduction defects. Clinical manifestation also included thumb hypoplasia and extreme hypoplasia of other fingers, with agenesis of all toes on both feet. Echocardiogram revealed foramen ovale apertum. Venography showed dilated malformed scalp and neck veins, predominantly on the right side. On the basis of the clinical features and extended investigation we confirmed Adams–Oliver syndrome in the presented patient.

Conclusion We recommended prenatal diagnosis in case of future pregnancies, ultrasound examination, and follow-up of foetal anomalies.

Keywords: Adams–Oliver syndrome; cutis marmorata telangiectatica; aplasia cutis congenita; transverse limb defects