{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:27:58Z","timestamp":1790972878167,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>We report on a consanguineous Lebanese family in which two sibs had pre\u2010 and post\u2010natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low\u2010set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. Radiographs disclosed the presence of wormian bones, platyspondyly, decreased interpedicular distance at the lumbar vertebrae, square iliac bones, horizontal acetabula, trident acetabula, hypoplastic ischia, partial agenesis of the sacrum, ribs with cupped ends, short long bones with abnormal modeling, slight widening of the distal femoral metaphyses, and delayed epiphyseal ossification. Both sibs had a severe cardiomegaly and died at around 24 months from a heart failure. Differential diagnosis suggests that this is a second family presenting a newly described early lethal chondrodysplasia first reported by [M\u00e9garban\u00e9 et al. (2008); Am J Med Genet Part A 146A:2916\u20132919]. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36372","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T18:45:16Z","timestamp":1390502716000},"page":"1010-1014","source":"Crossref","is-referenced-by-count":9,"title":["A second family with autosomal recessive spondylometaphyseal dysplasia and early death"],"prefix":"10.1002","volume":"164","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et Laboratoire Associe INSERM UMR S_910 P\u00f4le Technologie Sant\u00e9, Universit\u00e9 Saint Joseph Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et Laboratoire Associe INSERM UMR S_910 P\u00f4le Technologie Sant\u00e9, Universit\u00e9 Saint Joseph Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir El","family":"Zahr","sequence":"additional","affiliation":[{"name":"Neonatology Unit Hopital Rayak Bekaa Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soha","family":"Haddad","sequence":"additional","affiliation":[{"name":"Service de Radiologie H\u00f4tel\u2010Dieu de France Hospital Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Necker Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35306"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.195"},{"key":"e_1_2_4_4_1","first-page":"65","article-title":"A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia","volume":"6","author":"Fryns JP","year":"1995","journal-title":"Genetic Couns"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390211"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32540"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.746"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060403"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290212"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jor.1100020406"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32214"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"}],"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.36372","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36372","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T22:12:18Z","timestamp":1696543938000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36372"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,23]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["10.1002\/ajmg.a.36372"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36372","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,23]]}}}