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The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widow's peak, broad nasal bridge, and simple ears with fleshy overfolded helices. This phenotype does not fully meet typical diagnostic features of any known condition. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33127","type":"journal-article","created":{"date-parts":[[2009,11,24]],"date-time":"2009-11-24T19:12:54Z","timestamp":1259089974000},"page":"2655-2660","source":"Crossref","is-referenced-by-count":0,"title":["A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities"],"prefix":"10.1002","volume":"149A","author":[{"given":"Ronen","family":"Spiegel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoseph","family":"Horovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fikret","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilana","family":"Chervinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,11,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80247-5"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10265"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(04)00133-X"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100106"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.2459\/01.JCM.0000269708.72487.34"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(02)00113-X"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050450"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201081"},{"key":"e_1_2_6_11_1","first-page":"185","article-title":"Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever","volume":"30","author":"Padeh S","year":"2003","journal-title":"J Rheumatol"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.305"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.1.44"},{"key":"e_1_2_6_14_1","first-page":"645","article-title":"A newly recognized dwarfing syndrome","volume":"117","author":"Robinow M","year":"1969","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/303084"},{"key":"e_1_2_6_16_1","first-page":"1492","article-title":"Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli\u2010Arab population","volume":"27","author":"Shinawi M","year":"2000","journal-title":"J Rheumatol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280306"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10870"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30785"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/78113"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<455::AID-AJMG16>3.0.CO;2-R"}],"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.33127","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33127","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T05:40:06Z","timestamp":1697434806000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,24]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1002\/ajmg.a.33127"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33127","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,24]]}}}