[Adams-Oliver syndrome: case report].
2011
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.
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