{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:10:19Z","timestamp":1766869819282},"reference-count":10,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2006,6,12]],"date-time":"2006-06-12T00:00:00Z","timestamp":1150070400000},"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":[[2006,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso\u2010lumbar scoliosis, biconcave vertebral bodies of the thoraco\u2010lumbar spine, and narrowed lumbar canal. In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads. The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo\u2010skeletal syndrome is raised. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31316","type":"journal-article","created":{"date-parts":[[2006,6,13]],"date-time":"2006-06-13T01:31:49Z","timestamp":1150162309000},"page":"1491-1496","source":"Crossref","is-referenced-by-count":12,"title":["A newly recognized autosomal recessive syndrome with short stature and oculo\u2010skeletal involvement"],"prefix":"10.1002","volume":"140A","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ismat","family":"Ghanem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naji","family":"Waked","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernand","family":"Dagher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6,12]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050679"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120290054010"},{"key":"e_1_2_4_4_1","first-page":"429","article-title":"Familial osteochondrodysplastic dwarfism associated with deafness and retinitis pigmentosa","volume":"46","author":"Khaldi F","year":"1989","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01502.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330311"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30138"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.1.46"},{"key":"e_1_2_4_9_1","first-page":"995","article-title":"Forms of dysostotic dwarfism of uncertain classification","volume":"12","author":"Silverman FN","year":"1969","journal-title":"Ann Radiol (Paris)"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30145"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420305"}],"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.31316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T20:14:09Z","timestamp":1696968849000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,12]]},"references-count":10,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2006,7,15]]}},"alternative-id":["10.1002\/ajmg.a.31316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31316","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,12]]}}}