{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T07:43:15Z","timestamp":1696664595326},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label \/><jats:p>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\u2010year\u2010old male with DK phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well\u2010preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK phocomelia syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37039","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:51:52Z","timestamp":1429674712000},"page":"1632-1636","source":"Crossref","is-referenced-by-count":1,"title":["Neurocognitive profile of a young adolescent with DK phocomelia\/von Voss phocomelia\/von Voss Cherstvoy syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Tanya N.","family":"Antonini","sequence":"first","affiliation":[{"name":"Department of Pediatrics Section of Psychology Baylor College of Medicine\/Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie","family":"Van Horn Kerne","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Psychology Baylor College of Medicine\/Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marni E.","family":"Axelrad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Psychology Baylor College of Medicine\/Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lefkothea P.","family":"Karaviti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Endocrinology and Metabolism Baylor College of Medicine\/Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Psychology Baylor College of Medicine\/Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Wide range assessment of memory and learning","author":"Adams W","year":"2003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<408::AID-AJMG7>3.0.CO;2-J"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3283438196"},{"key":"e_1_2_6_5_1","volume-title":"Beery\u2010Buktenica developmental test of visual\u2010motor integration","author":"Beery KE","year":"2010"},{"key":"e_1_2_6_6_1","volume-title":"Judgment of line orientation","author":"Benton AL","year":"1983"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20593"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)91925-X"},{"key":"e_1_2_6_9_1","volume-title":"Conners' continuous performance test","author":"Conners CK","year":"2000"},{"key":"e_1_2_6_10_1","volume-title":"Delis Kaplan executive function system","author":"Delis DC","year":"2001"},{"key":"e_1_2_6_11_1","volume-title":"California verbal learning test\u2013children's version","author":"Delis DC","year":"1994"},{"key":"e_1_2_6_12_1","volume-title":"Behavior rating inventory of executive function","author":"Gioia GA","year":"2000"},{"key":"e_1_2_6_13_1","unstructured":"M Korkman U Kirk SL Kemp 2007 Harcourt Assessment Inc San Antonio TX"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","unstructured":"LubinskyMS SpeerSG HoymeIE KirilovaHE LurieIA LurieIW.1994. 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Phokomelie Menigoenzephalozeleund hypoplatische Thrombocytopenie ein neues Syndrom? In \"Klinische Genetik in der Padiatrie.\" I. Symposion Kiel Juli 1978. 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