{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T16:41:29Z","timestamp":1772469689056,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":3867,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy, make it likely that oncocytic cardiomyopathy is also X\u2010linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:54Z","timestamp":1118511894000},"page":"141-148","source":"Crossref","is-referenced-by-count":56,"title":["Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?"],"prefix":"10.1002","volume":"53","author":[{"given":"Lynne M.","family":"Bird","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry F.","family":"Krous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence F.","family":"Eichenfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher I.","family":"Swalwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn C.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"638","article-title":"An XX male and two t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3","volume":"25","author":"Al\u2010Gazali LI","year":"1988","journal-title":"J Med Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.59"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.143-a"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.77.4.556"},{"key":"e_1_2_1_6_1","first-page":"407","volume-title":"Pathology of Congenital Heart Disease","author":"Becker AE","year":"1981"},{"key":"e_1_2_1_7_1","first-page":"26","article-title":"Focal lipid cardiomyopathy in an infant with paroxysmal atrial tachycardia","volume":"95","author":"Bove KE","year":"1973","journal-title":"Arch Pathol"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/00313027709085249"},{"issue":"8","key":"e_1_2_1_9_1","first-page":"181","article-title":"Familial cardiac lipidosis","volume":"10","author":"Deacon JS","year":"1974","journal-title":"BD: OAS"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.53.4.708"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(88)80296-X"},{"key":"e_1_2_1_12_1","unstructured":"FriedmanPA RaoKW TeplinSW AylsworthAS(1988): Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31.Am J Hum Genet (Suppl):A50."},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198405313102207"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0046-8177(93)90219-7"},{"key":"e_1_2_1_15_1","first-page":"A271","article-title":"Further delineation of the Xp22.2\u2010pter syndrome of linear skin lesions, microphthalmia and anterior chamber eye abnormalities","volume":"49","author":"Gericke GS","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197207272870409"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470525"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01263038"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(68)90154-9"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(70)90581-3"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.52.2.333"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(72)90603-0"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.75.4.705"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(87)90789-7"},{"key":"e_1_2_1_25_1","unstructured":"LebelRR ElejadeBR BennettL EngA HusayniT SugarJ GibsonL AndersonC(1992):Gazali\u2010Temple syndrome: Dermatologic streaks microphthalmia and chromosome rearrangements with chromosome breakpoints near Xp22.3. Presented at March of Dimes 24th Clinical Genetics Conference A37 Stanford CA."},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440115"},{"key":"e_1_2_1_27_1","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1542\/peds.48.2.312","article-title":"Infantile xanthomatous cardiomyopathy","volume":"48","author":"MacMahon HE","year":"1971","journal-title":"Pediatrics"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(84)90553-8"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430517"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198418100-00023"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1520\/JFS13547J"},{"key":"e_1_2_1_32_1","first-page":"123","article-title":"Infantile xanthomatous cardiomyopathy","volume":"16","author":"Radford DJ","year":"1980","journal-title":"Aust Paediatr J"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80109-X"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.30.5.726"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.87.3.340"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(83)90103-0"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(80)80071-2"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.40.3.329"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(12)60926-4"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.56"},{"key":"e_1_2_1_41_1","first-page":"646","article-title":"Uber die arachnocytose des Herzmuskels","volume":"71","author":"Voth D","year":"1962","journal-title":"Frankfurter Zeit Path"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(35)80098-X"},{"key":"e_1_2_1_43_1","first-page":"306","article-title":"Foamy myocardial transformation of infancy","volume":"102","author":"Witzleben CL","year":"1978","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00431240"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320530205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320530205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T02:16:54Z","timestamp":1698113814000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320530205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,11]]},"references-count":43,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,11]]}},"alternative-id":["10.1002\/ajmg.1320530205"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320530205","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,11]]}}}