Article
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
American journal of medical genetics. Part A - 1 Jul 2015
Antonini Tanya N, Van Horn Kerne Valerie, Axelrad Marni E, Karaviti Lefkothea P, Schwartz David D
Abstract excerpt
DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia...
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