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Year : 2017  |  Volume : 6  |  Issue : 1  |  Page : 167

A Case of Adams–Oliver Syndrome

1 Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran
2 Department of Pediatrics, University of Medical Sciences, Tehran, Iran

Correspondence Address:
Dr. Minoo Saeidi
Imam Hossein Children Hospital, Isfahan University of Medical Sciences, Isfahan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-9175.221861

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Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging. No other internal organ involvement was obvious in this patient. Family history was negative for this syndrome. AOS is a multisystem disorder, and so it is crucial to investigate for internal organ involvements.

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