{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T07:24:50Z","timestamp":1769239490792,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,9]]},"abstract":"<jats:p>We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of \"progressive combined immunodeficiency and ectomesodermal dysplasia\". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.<\/jats:p>","DOI":"10.1136\/jmg.31.9.707","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"707-711","source":"Crossref","is-referenced-by-count":34,"title":["Mulvihill-Smith syndrome: case report and review."],"prefix":"10.1136","volume":"31","author":[{"given":"O","family":"Bartsch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K D","family":"Tympner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Schwinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R J","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,9,1]]},"reference":[{"key":"ref_1","first-page":"368","article-title":"Another disorder with prenatal shortness of stature and prenatal aging","volume":"2","author":"Mulvihill, J.J.; Smith, D.W.","year":"1975","unstructured":"Mulvihill JJ, Smith DW. Another disorder with prenatal shortness of stature and prenatal aging. Birth Defects 1975; XI(2):368-7 1.","journal-title":"Birth Defects"},{"key":"ref_2","first-page":"353","article-title":"An unidentified syndrome with abnormality of the skin and hair","volume":"8","author":"Shepard, M.K.","year":"1971","unstructured":"Shepard MK. An unidentified syndrome with abnormality of the skin and hair. Birth Defects 1971;VII(8):353-4.","journal-title":"Birth Defects"},{"key":"ref_3","first-page":"364","article-title":"Undiagnosed syndrome of psychomotor retardation, low birthweight, dwarfism, skeletal, dental, dermal and genital anomalies","volume":"2","author":"Elliott, D.E.","year":"1975","unstructured":"Elliott DE. Undiagnosed syndrome of psychomotor retardation, low birthweight, dwarfism, skeletal, dental, dermal and genital anomalies. Birth Defects 1975;XI(2): 364-7.","journal-title":"Birth Defects"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.25.1.53","article-title":"A recognisable short stature syndrome with premature aging and pigmented naevi","volume":"25","author":"Baraitser, M.; Insley, J.; Winter, R.M.","year":"1988","unstructured":"Baraitser M, Insley J, Winter RM. A recognisable short stature syndrome with premature aging and pigmented naevi. J Med Genet 1988;25:53-6.","journal-title":"J Med Genet"},{"key":"ref_5","first-page":"487","article-title":"Syndromes of the head and neck","author":"Gorlin, R.J.; Cohen, M.M.; Levin, L.S.","year":"1990","unstructured":"Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. 3rd ed. New York: McGraw-Hill, 1990:487-8.","edition":"3rd ed"},{"key":"ref_6","first-page":"286","article-title":"Rosenthal IM, Solomon LM. Case report for syndrome identification","volume":"16","author":"Wong, W.; Cohen, M.M.; Miller, M.; Pruzansky, S.","year":"1979","unstructured":"Wong W, Cohen MM, Miller M, Pruzansky S, Rosenthal IM, Solomon LM. Case report for syndrome identification. Cleft Palate J 1979;16:286-90.","journal-title":"Cleft Palate J"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ajmg.1320450516","article-title":"Premature aging and immunodeficiency: Mulvihill-Smith syndrome?","volume":"45","author":"Ohashi, H.; Tsukahara, M.; Murano, I.","year":"1993","unstructured":"Ohashi H, Tsukahara M, Murano I, et al. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Ani J Med Genet 1993;45:597-600.","journal-title":"Ani J Med Genet"},{"key":"ref_8","first-page":"610","article-title":"Progressiver kombinierter Immunodefekt mit ekto-mesodermaler Dysplasie","volume":"190","author":"Tympner, K.D.; Belohradksy, B.; Eife, R.; Klose, P.K.","year":"1978","unstructured":"Tympner KD, Belohradksy B, Eife R, Klose PK. Progressiver kombinierter Immunodefekt mit ekto-mesodermaler Dysplasie. Kin Padiatrie 1978;190:610-13.","journal-title":"Kin Padiatrie"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/j.1399-0004.1991.tb03049.x","article-title":"IBM-PC compatible software for establishing metacarpophalangeal pattern profiles","volume":"39","author":"Hosenfeld, D.; Hosenfeld, F.; Schaefer, E.; Grote, W.","year":"1991","unstructured":"Hosenfeld D, Hosenfeld F, Schaefer E, Grote W. IBM-PC compatible software for establishing metacarpophalangeal pattern profiles. Clin Genet 1991;39:396-400.","journal-title":"Clin Genet"},{"key":"ref_10","first-page":"70","article-title":"Pigmented naevi after therapy of leukaemia (ALL) in a monozygotic twin","volume":"142","author":"Heyne, K.; Hof, M.; Hansen, H.G.","year":"1984","unstructured":"Heyne K, Hof M, Hansen HG. Pigmented naevi after therapy of leukaemia (ALL) in a monozygotic twin. Eur 7 Pediatr 1984;142:70."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.9.707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:53:57Z","timestamp":1759686837000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.9.707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1994,9,1]]},"published-print":{"date-parts":[[1994,9]]}},"alternative-id":["10.1136\/jmg.31.9.707"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.9.707","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9]]}}}