A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation.
Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by aplasia cutis congenita (ACC) of the scalp and variable degrees of terminal transverse limb defects. In this article, a newborn infant diagnosed as AOS for a large scalp defect, acrania, and finger malformations is presented. The patient was hospitalized and the scalp defect was successfully repaired with several surgical operations. During the hospitalization septicemia, meningitis, and convulsions developed, but they were successfully treated with appropriate antibiotics, antifungal, and anticonvulsive agents, He was discharged five months after admission to the hospital. Now, he is 3 years old, and has microcephaly, moderate mental retardation, left spastic hemiplegia, and epilepsy.
Caksen
H
H
Department of Pediatrics, Yüzüncü Yil University Faculty of Medicine, Kayseri, Turkey.
Kurtoğlu
S
S
D000015:Abnormalities, Multiple / Q000235:genetics; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology* / Q000235:genetics; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000209:etiology; D006429:Hemiplegia / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics; D018919:Neovascularization, Physiologic / Q000235:genetics; D012535:Scalp / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities