{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:37:16Z","timestamp":1790743036529,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2010,10,26]],"date-time":"2010-10-26T00:00:00Z","timestamp":1288051200000},"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":[[2010,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 25\u2010year\u2010old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and <jats:italic>FBN1<\/jats:italic> mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (<jats:italic>APGAT2, BSCL2, CAV1, PTRF\u2010CAVIN, PPARG, LMNB2)<\/jats:italic> or with Hutchinson\u2013Gilford progeria (<jats:italic>ZMPSTE24<\/jats:italic>, <jats:italic>LMNA\/C<\/jats:italic>). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma\u2010like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421\u20131430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann\u2013Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33690","type":"journal-article","created":{"date-parts":[[2010,10,26]],"date-time":"2010-10-26T20:26:10Z","timestamp":1288124770000},"page":"2749-2755","source":"Crossref","is-referenced-by-count":74,"title":["Marfan syndrome with neonatal progeroid syndrome\u2010like lipodystrophy associated with a novel frameshift mutation at the 3\u2032 terminus of the <i>FBN1<\/i>\u2010gene"],"prefix":"10.1002","volume":"152A","author":[{"given":"Luitgard M.","family":"Graul\u2010Neumann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Kienitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevjidmaa","family":"Baasanjav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Karow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raimund","family":"Fahsold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eberhard","family":"Passarge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,10,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ijo.0802487"},{"key":"e_1_2_7_3_1","first-page":"34","article-title":"Terminally ill patients' expectations of nurses","volume":"7","author":"Arblaster G","year":"1990","journal-title":"Aust J Adv Nurs"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exger.2007.07.004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2009.03.012"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.109"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.434"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1536"},{"key":"e_1_2_7_9_1","unstructured":"ConsolazioCF MatoushLR NelsonRA LeveilleGA.1963.The excretion of lipid and lipid substances in human sweat. 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