{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T06:42:47Z","timestamp":1769236967770,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4481,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 30\u2010year\u2010old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill\u2010Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an under\u2010developed lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein\u2010Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill\u2010Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450516","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"597-600","source":"Crossref","is-referenced-by-count":31,"title":["Premature aging and immunodeficiency: Mulvihill\u2010Smith syndrome?"],"prefix":"10.1002","volume":"45","author":[{"given":"Hirofumi","family":"Ohashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masato","family":"Tsukahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Murano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinya","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kajii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.53"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-7992(82)90026-4"},{"issue":"2","key":"e_1_2_1_4_1","first-page":"364","article-title":"Undiagnosed syndrome of psychomotor retardation, low birthweight dwarfism, skeletal, dental, dermal and genital anomalies","volume":"11","author":"Elliott DE","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01891237"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00600.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01912484"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281059"},{"issue":"2","key":"e_1_2_1_9_1","first-page":"368","article-title":"Another disorder with prenatal shortness of stature and premature aging","volume":"11","author":"Mulvihill JJ","year":"1975","journal-title":"Birth Defects"},{"issue":"8","key":"e_1_2_1_10_1","first-page":"353","article-title":"An unidentified syndrome with abnormality of skin and hair","volume":"7","author":"Shepard MK","year":"1971","journal-title":"Birth Defects"},{"key":"e_1_2_1_11_1","first-page":"286","article-title":"Case report for syndrome identification","volume":"16","author":"Wong W","year":"1979","journal-title":"Cleft Palate J"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450516","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450516","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T08:22:02Z","timestamp":1698308522000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450516"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1002\/ajmg.1320450516"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450516","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}