{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:29:11Z","timestamp":1761647351383},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3773,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,16]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965]. Little information is available on natural history and adulthood in this disorder. We report on a 30\u2010year\u2010old woman who was one of the first patients to be diagnosed with the condition [Grosse et al., 1971, Z Kinderheilkd 110:175\u2013187]. Microcephaly, short stature, leg length discrepancy, hyperextensible joints, spina bifida occulta, and absence of anterior cruciate ligaments were present. Her facial appearance had been modified by several plastic surgery procedures. Eczema resolved with age, with occasional flareups. Asthma, headaches, and seizures were additional medical findings. Speech delays, an unusually soft, high\u2010pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood. Mild mental retardation was present. At age 30 years she is living independently in her own apartment and working full\u2010time in a nearby sheltered workshop. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:48Z","timestamp":1118512428000},"page":"161-164","source":"Crossref","is-referenced-by-count":16,"title":["Dubowitz syndrome: Long\u2010term follow\u2010up of an original patient"],"prefix":"10.1002","volume":"55","author":[{"given":"Karen E.","family":"Hansen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan J.","family":"Kirkpatrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Laxova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"145","article-title":"Das Dubowitz\u2010Syndrom","volume":"57","author":"Belohradsky BH","year":"1988","journal-title":"Ergeb Inn Med Kinderheilkd"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02467366"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1026822"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2.1.12"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040405"},{"key":"e_1_2_1_7_1","first-page":"467","article-title":"Dubowitz\u2010Syndrom und akute lymphatische leuk\u00e4mia","volume":"131","author":"Gr\u00f6be H","year":"1983","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440382"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350423"},{"key":"e_1_2_1_10_1","first-page":"93","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370215"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.1.68"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070209"},{"key":"e_1_2_1_14_1","first-page":"885","article-title":"Dubowitz\u2010Syndrom mit immunderfizienz und malignem neoplasma bei zwei geschwistern","volume":"125","author":"Sauer O","year":"1977","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1991.tb04395.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80089-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320550205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:46:54Z","timestamp":1698374814000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,16]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,1,16]]}},"alternative-id":["10.1002\/ajmg.1320550205"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550205","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,16]]}}}