{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T21:06:55Z","timestamp":1760044015094},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,11]],"date-time":"2009-02-11T00:00:00Z","timestamp":1234310400000},"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":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mulvihill\u2013Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28\u2010year\u2010old woman with Mulvihill\u2013Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K\u2010complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo\u2010limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamo\u2010limbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill\u2013Smith syndrome. Am. J. Med. Genet. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32551","type":"journal-article","created":{"date-parts":[[2009,2,11]],"date-time":"2009-02-11T19:45:10Z","timestamp":1234381510000},"page":"496-500","source":"Crossref","is-referenced-by-count":24,"title":["Case report: Adult phenotype of Mulvihill\u2013Smith syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Tatsuhiko","family":"Yagihashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motoichiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaori","family":"Yago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Tsubota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoru","family":"Okubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goro","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.53"},{"key":"e_1_2_4_3_1","first-page":"175","article-title":"Severe complications and gastric carcinoma in Mulvihill\u2010Smith syndrome","volume":"36","author":"Bartsch O","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.9.707"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<56::AID-AJMG11>3.0.CO;2-N"},{"key":"e_1_2_4_6_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 Orig Artic Ser"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2869.2005.00465.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1053\/smrv.2001.0166"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-2457(02)00022-6"},{"key":"e_1_2_4_10_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 Orig Artic Ser"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450516"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jamcollsurg.2005.02.011"},{"key":"e_1_2_4_13_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 Orig Artic Ser"},{"key":"e_1_2_4_14_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 Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32551","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32551","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:00:48Z","timestamp":1697601648000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32551"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,11]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/ajmg.a.32551"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32551","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,11]]}}}