{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:49:54Z","timestamp":1760906994073},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,5,16]],"date-time":"2014-05-16T00:00:00Z","timestamp":1400198400000},"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":[[2014,9]]},"abstract":"<jats:sec><jats:label \/><jats:p>We describe a\u20102\u2010year\u2010old boy who presented with a neonatal history of thrombocytopenia associated with a constellation of limb malformations mimicking split hand\/foot malformation with long bone deficiency (SHFLD) syndrome. Limb malformations consisted of unilateral monodactyly with radial aplasia, unilateral split foot and bilateral club foot. Tibial aplasia of one limb and tibial hypoplasia of the other limb were notable. Partial agenesis of the sacrum was additional skeletal malformation. Craniofacial features included dense thick scalp hair, narrow frontal area, thick eye\u2010brows, deep\u2010set eyes, depressed nasal bridge, and small overhanging nasal tip, full\u2010cheeks, and large ears. Array\u2010CGH showed duplication of the short arm of chromosome 17p13.3 in the boy and his father, respectively. The father was free from any skeletal abnormalities, though he shares similar craniofacial dysmorphic features like his son. In addition, a paternal sib (uncle of the proband) manifested a phenotype similar to that of the proband. To the best of our knowledge the overall phenotypic and genotypic characterizations were consistent but not completely compatible with the traditional type of TAR syndrome or with SHFLD syndrome. We report on what might be a novel variant of SHFLD associated with transient thrombocytopenia, dysmorphic facial features, and a constellation of bone malformations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36614","type":"journal-article","created":{"date-parts":[[2014,5,16]],"date-time":"2014-05-16T17:16:02Z","timestamp":1400260562000},"page":"2338-2343","source":"Crossref","is-referenced-by-count":8,"title":["A child with split\u2010hand\/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3"],"prefix":"10.1002","volume":"164","author":[{"given":"Ali","family":"Al Kaissi","sequence":"first","affiliation":[{"name":"Ludwig Boltzmann Institute of Osteology Hanusch Hospital of WGKK Vienna Austria"},{"name":"AUVA Trauma Centre Meidling, First Medical Department Hanusch Hospital Vienna Austria"},{"name":"Paediatric Department Orthopaedic Hospital of Speising Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf","family":"Ganger","sequence":"additional","affiliation":[{"name":"Paediatric Department Orthopaedic Hospital of Speising Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina M.","family":"R\u00f6tzer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical University of Graz Graz Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Klaushofer","sequence":"additional","affiliation":[{"name":"Ludwig Boltzmann Institute of Osteology Hanusch Hospital of WGKK Vienna Austria"},{"name":"AUVA Trauma Centre Meidling, First Medical Department Hanusch Hospital Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Grill","sequence":"additional","affiliation":[{"name":"Paediatric Department Orthopaedic Hospital of Speising Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,5,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1083"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.97"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0390-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069906"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg212"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg090"},{"key":"e_1_2_5_8_1","first-page":"17","article-title":"Mapping of the gene for X\u2010chromosomal splithand\/split\u2010foot anomaly to Xq26\u2013q26.1","volume":"91","author":"Faiyaz ul HM","year":"1993","journal-title":"Hum Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2006.10.019"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.876"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.05.001"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100409"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0515-7"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<185::AID-AJMG32>3.0.CO;2-I"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273072"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31239"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.103.Supplement.213"},{"key":"e_1_2_5_20_1","first-page":"187","volume-title":"Birth defects:original article series","author":"Temtamy S","year":"1978"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530107"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36614","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T14:45:18Z","timestamp":1700664318000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,16]]},"references-count":21,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.a.36614"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36614","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,16]]}}}