{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:10:37Z","timestamp":1783483837560,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,6]],"date-time":"2003-05-06T00:00:00Z","timestamp":1052179200000},"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":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found. Comparison of the condition of these patients with known syndromic lipodystrophies suggests that they represent a previously unrecognized genetic disorder. The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20245","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T14:11:08Z","timestamp":1061561468000},"page":"271-276","source":"Crossref","is-referenced-by-count":17,"title":["Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?"],"prefix":"10.1002","volume":"121A","author":[{"given":"A.","family":"Rajab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Khaburi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,8,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-14-2-193"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-69-3-501"},{"issue":"9","key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"3390","DOI":"10.1210\/jcem.84.9.6103","article-title":"A gene for congenital generalized lipodystrophy maps to human chromosome 9q34","volume":"84","author":"Garg A","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_5_5_1","first-page":"52","article-title":"Genetics of the Berardinelli\u2013Seip syndrome (congenital generalized lipodystrophy) in Norway: Epidemiology and gene mapping","volume":"413","author":"Gedde\u2010Dahl T","year":"1996","journal-title":"Acta Paediatr Suppl"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285157"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/BF00483251","article-title":"Zur Lipodystrophia progressiva","volume":"210","author":"Langhof H","year":"1960","journal-title":"Arch Klin Exp Derm"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.7.473"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng585"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420115"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10437"},{"key":"e_1_2_5_12_1","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1001\/archderm.1965.01600100042012","article-title":"Congenital lipodystrophic diabetes with acanthosis nigricans","volume":"91","author":"Reed WB","year":"1965","journal-title":"Arch Dermatol"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1959.tb17558.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.201.447"},{"key":"e_1_2_5_15_1","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1542\/peds.33.4.593","article-title":"Syndromes of total lipodystrophy and of partial lypodystrophy","volume":"33","author":"Senior B","year":"1964","journal-title":"Pediatrics"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/72807"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<397::AID-AJMG5>3.0.CO;2-R"},{"key":"e_1_2_5_18_1","volume-title":"London dysmorphology database","author":"Winter RM","year":"2000"}],"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.20245","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20245","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T19:06:27Z","timestamp":1700247987000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,11]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["10.1002\/ajmg.a.20245"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20245","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,11]]}}}