{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:30Z","timestamp":1761718170035},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,22]],"date-time":"2011-02-22T00:00:00Z","timestamp":1298332800000},"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":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Blepharophimosis\u2013mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6\u2010year\u2010old girl and an 18\u2010month\u2010old male, presenting with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ears, and micrognathia. Ectodermal abnormalities consisted of fine hair, sparse eyebrows, and thin skin. Both patients had feeding difficulties with gastro\u2010esophageal reflux and growth retardation. Psychomotor skills were severely delayed with no verbal capacity. The male sib also displayed low growth hormone (GH) levels, while the older sister had low cholesterol and mildly elevated TSH levels. Numerous metabolic\/genetic investigations, including cholesterol precursors, dosage, and high\u2010resolution array\u2010CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden\u2013Walker syndrome, Ohdo\/Ohdo\u2010like syndromes, and the cholesterol storage disorders were considered. We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young\u2013Simpson syndrome subtype. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33642","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:22:43Z","timestamp":1298481763000},"page":"459-465","source":"Crossref","is-referenced-by-count":13,"title":["The difficult nosology of blepharophimosis\u2013mental retardation syndromes: Report on two siblings"],"prefix":"10.1002","volume":"155","author":[{"given":"Maria Lisa","family":"Dentici","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,2,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.12.005"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.131"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.3.255"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01235.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360304"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.785"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199404000-00004"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<52::AID-AJMG11>3.0.CO;2-R"},{"key":"e_1_2_5_11_1","first-page":"180","article-title":"The 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