{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:09:37Z","timestamp":1772993377810,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T00:00:00Z","timestamp":1226620800000},"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":[[2008,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a consanguineous Lebanese family where two sibs had an axial hypotonia, developmental delay, hirsutism, large fontanels with delayed closure, and dysmorphic facial features that consist of frontal bossing, prominent eyes, slightly down\u2010slanting palpebral fissures, hypertelorism, telecanthus, long eyelashes, gum hypertrophy, and pointed chin. In addition, they had short neck, abnormal thoracic configuration, wrinkled skin on the hands and abdomen, hepato\u2010splenomegaly and neonatal spontaneous fractures. Their overall health and hepatic function deteriorated every time they had fever. The eldest boy died at the age of 18 months secondary to a hepatic failure. Laboratory exams did not reveal any anomaly except for the hepatic function. Differential diagnoses are discussed and the possibility that we might be reporting on a new metabolic syndrome is raised. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32579","type":"journal-article","created":{"date-parts":[[2008,11,14]],"date-time":"2008-11-14T22:51:07Z","timestamp":1226703067000},"page":"3198-3201","source":"Crossref","is-referenced-by-count":16,"title":["Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?"],"prefix":"10.1002","volume":"146A","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Samaras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rima","family":"Ch\u00e9did","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Chr\u00e9tien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joelle","family":"Abou\u2010Ghoch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Jalkh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,11,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/342668"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-13"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0020-7292(98)00127-1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.5.745"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng746"},{"key":"e_1_2_5_7_1","first-page":"492","article-title":"mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases","volume":"48","author":"Moraes CT","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2926"},{"key":"e_1_2_5_9_1","first-page":"2371","article-title":"Clinical phenotype of lathosterolosis","volume":"15","author":"Rossi M","year":"2005","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_10_1","first-page":"133","article-title":"Birth injuries: Incidence and predisposing factors","volume":"45","author":"Salonen IS","year":"1990","journal-title":"Z Kinderchir"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.08.016"}],"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.32579","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:32:33Z","timestamp":1697621553000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,14]]},"references-count":10,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2008,12,15]]}},"alternative-id":["10.1002\/ajmg.a.32579"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32579","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,14]]}}}