{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:45:22Z","timestamp":1790970322790,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,4]]},"abstract":"<jats:p>Familial lipodystrophy (referred to in publications as the K\u00f6bberling-Dunnigan syndrome) comprises at least two clinical phenotypes which are consistent within each pedigree. In type 1 familial lipodystrophy, loss of subcutaneous fat is confined to the limbs, sparing the face and trunk. In type 2 familial lipodystrophy, the trunk is also affected with the exception of the vulva, giving an appearance of labial hypertrophy. Diabetes mellitus, hyperlipoproteinaemia, and acanthosis nigricans are present to a variable degree in some but not all patients with familial lipodystrophy, and the abnormal distribution of subcutaneous fat is the essential hallmark of the syndrome. In addition to a survey of published reports, new cases with the syndrome are described. Both types of partial lipodystrophy, occurring either as familial disease or as sporadic cases, have only been observed in female patients. Study of the pedigrees of five families with familial lipodystrophy (two Scottish and three German) suggests an X linked dominant mode of transmission, lethal in the hemizygous (XY) state. The two clinical phenotypes with their variably expressive metabolic abnormalities are consistent either with different mutants of the same allele or with two genes on adjacent loci. Other clinical phenotypes of familial lipodystrophy may exist due to further mutations of the same allele or of genes on adjacent loci. The nature of the disorder in patients with familial lipodystrophy usually escapes recognition for many years and the syndrome is almost certainly much commoner than the few families described to date suggest.<\/jats:p>","DOI":"10.1136\/jmg.23.2.120","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"120-127","source":"Crossref","is-referenced-by-count":129,"title":["Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state."],"prefix":"10.1136","volume":"23","author":[{"given":"J","family":"K\u00f6bberling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M G","family":"Dunnigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1986,4,1]]},"reference":[{"key":"ref_1","first-page":"450","article-title":"Metabolic control and disease","author":"Bondy, P.K.; Rosenberg, L.E.","year":"1980","unstructured":"Bondy PK, Rosenberg LE. 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Acta Paediatr Scand 1959;48:555-74.","journal-title":"Acta Paediatr Scand"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","article-title":"An undiagnosed endocrinometabolic syndrome: report of 2 cases","volume":"14","author":"Berardinelli, W.","year":"1954","unstructured":"Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol 1954;14:193-204.","journal-title":"J Clin Endocrinol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/S0140-6736(46)90528-4","article-title":"Lipodystrophy and hepatomegaly with diabetes, lipaemia and other metabolic disturbances","volume":"i:","author":"Lawrence, R.D.","year":"1946","unstructured":"Lawrence RD. Lipodystrophy and hepatomegaly with diabetes, lipaemia and other metabolic disturbances. Lancet 1946;i: 724-41.","journal-title":"Lancet"},{"key":"ref_6","first-page":"33","article-title":"Familial lipoatrophic diabetes with dominant transmission. A new syndrome","volume":"169","author":"Dunnigan, M.G.; Cochrane, M.A.; Kelly, A.; Scott, J.W.","year":"1974","unstructured":"Dunnigan MG, Cochrane MA, Kelly A, Scott JW. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med 1974;169:33-48.","journal-title":"Q J Med"},{"key":"ref_7","first-page":"111","article-title":"Lipodystrophy of the extremities. A dominant inherited syndrome associated with lipoatrophic diabetes","volume":"29","author":"Kobberling, J.; Willms, B.; Kattermann, R.; Creutzfeldt, W.","year":"1975","unstructured":"Kobberling J, Willms B, Kattermann R, Creutzfeldt W. Lipodystrophy of the extremities. A dominant inherited syndrome associated with lipoatrophic diabetes. Humangenetik 1975;29:111-20.","journal-title":"Humangenetik"},{"key":"ref_8","first-page":"958","article-title":"Partielle Lipodystrophie mit lipoatrophischem Diabetes und Hyperlipoproteinamia","volume":"87","author":"Kobberling, J.; Schwarck, H.; Cremer, P.; Fiechtl, J.; Seidel, D.; Creuzfeldt, W.","year":"1981","unstructured":"Kobberling J, Schwarck H, Cremer P, Fiechtl J, Seidel D, Creuzfeldt W. Partielle Lipodystrophie mit lipoatrophischem Diabetes und Hyperlipoproteinamia. Verh Dtsch Ges Inn Med 1981;87:958-61.","journal-title":"Verh Dtsch Ges Inn Med"},{"key":"ref_9","first-page":"578","volume-title":"Basic and clinical endocrinology","author":"Greenspan FS, Forsham PR.","year":"1983","unstructured":"Greenspan FS, Forsham PR. Basic and clinical endocrinology. Los Altos: Lange Medical Publications, 1983:578."},{"key":"ref_9a","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1210\/jcem-52-3-416","article-title":"Heterogeneity of the insulin-receptor interaction in lipoatrophic diabetes","volume":"52","author":"Wachslicht-Rodbard H, Muggeo M, Kahn CR, Saviolakis GA, Harrison LC, Flier JS.","year":"1981","unstructured":"Wachslicht-Rodbard H, Muggeo M, Kahn CR, Saviolakis GA, Harrison LC, Flier JS. Heterogeneity of the insulin-receptor interaction in lipoatrophic diabetes. J Clin Endocrinol Metab 1981;52:416-25.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"160","DOI":"10.2337\/diacare.6.2.160","article-title":"The effect of fenfluramine and caloric restriction on carbohydrate homeostasis in patients with lipodystrophy","volume":"6","author":"Wilson, T.A.; Melton, T.; Clarke, W.L.","year":"1983","unstructured":"Wilson TA, Melton T, Clarke WL. The effect of fenfluramine and caloric restriction on carbohydrate homeostasis in patients with lipodystrophy. Diabetes Care 1983;6:160-5.","journal-title":"Diabetes Care"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/BF01222107","article-title":"Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities","volume":"11","author":"Davidson, M.B.; Young, R.T.","year":"1975","unstructured":"Davidson MB, Young RT. Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. Diabetologia 1975;11:561-8.","journal-title":"Diabetologia"},{"key":"ref_12","first-page":"\"737","article-title":"A \"new\" variety of lipodystrophy. Clin Res 1973; 21: 533A. 14 Lillystone D, West RJ. Lipodystrophy of limbs associated with insulin resistance","volume":"50","author":"Ozer, F.L.; Lichtenstein, JR, Kwiterovich; PO, McKusick; V.A.","year":"1975","unstructured":"Ozer FL, Lichtenstein JR, Kwiterovich PO, McKusick VA. A \"new\" variety of lipodystrophy. Clin Res 1973;21:533A. 14 Lillystone D, West RJ. Lipodystrophy of limbs associated with insulin resistance. Arch Dis Child 1975;50:737-9. '5 Chait A, Janus E, Mason AS, Lewis B. Lipodystrophy with hyperlipidaemia: the role of insulin in very low density lipoprotein over-synthesis. Clin Endocrinol 1979;10:173-8.","journal-title":"Arch Dis Child; Lipodystrophy with hyperlipidaemia: the role of insulin in very low density lipoprotein over-synthesis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.2.120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:41:27Z","timestamp":1760726487000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.2.120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,4]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1986,4,1]]},"published-print":{"date-parts":[[1986,4]]}},"alternative-id":["10.1136\/jmg.23.2.120"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.2.120","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,4]]}}}