[Aarskog syndrome. A case report]
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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
P Cincinnati1, A M Lombardi, M Morelli
1Sezione Autonoma di Pediatria, Ospedale Civile, Genzano, Roma.
Abstract:
A case of Aarskog syndrome in a 10-year-old boy born to an epileptic woman is reported. Clinical features and genetics of the condition are reviewed. An underestimated incidence of the syndrome related to its mild phenotypical appearance is suggested. Finally the association between Aarskog syndrome and maternal epilepsy is discussed.
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