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  • Title: Aplasia cutis congenita associated with multiple congenital anomalies: case report.
    Author: Yilmaz MB, Aydin C, Ergun E, Nurata H, Baykaner MK.
    Journal: Turk Neurosurg; 2010 Jan; 20(1):66-8. PubMed ID: 20066625.
    Abstract:
    INTRODUCTION: Aplasia cutis congenita (ACC), is a rare anomaly presenting with a solitary scalp lesion of skin abrasion. Lesions can be multiple and on different surfaces of the body but are mostly seen on the scalp (%70) as a solitary lesion. As it is a rare disease, we aimed to describe our case with ACC. CASE REPORT: Our case was a newborn infant with a large full thickness skin and skull defect on the scalp at birth. He also had hypoplasia on the fingers, omphalocele, ectopic anus, cleft lip and palate anomalies and multiple cardiac anomalies. We planned further evaluation but he died 23 hours after birth because of cardiac problems. DISCUSSION: Multiple factors have been described as etiological factors for ACC but the etiology is not clear yet. ACC may also be associated with some syndromes. Management strategies are based on the size, presence of an underlying skull defect and the child's physical condition.
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