{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T18:22:33Z","timestamp":1783275753967,"version":"3.54.6"},"reference-count":8,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"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":[[2013,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein\u2013Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36124","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T03:30:53Z","timestamp":1376623853000},"page":"2401-2406","source":"Crossref","is-referenced-by-count":3,"title":["Intellectual disability, unusual facial morphology and hand anomalies in sibs"],"prefix":"10.1002","volume":"161","author":[{"given":"S\u00e9rgio B.","family":"Sousa","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"},{"name":"Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Ven\u00e2ncio","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Chanudet","sequence":"additional","affiliation":[{"name":"GOSgene UCL Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodger","family":"Palmer","sequence":"additional","affiliation":[{"name":"NE Thames Regional Genetics Service Laboratories Great Ormond Street Hospital for Children London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Ramos","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit UCL Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun E.","family":"Moore","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge M.","family":"Saraiva","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"},{"name":"University Clinic of Pediatrics, Faculty of Medicine University of Coimbra Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<245::AID-AJMG7>3.0.CO;2-K"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220416"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80304-2"},{"key":"e_1_2_5_5_1","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam RC","year":"2010"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31608"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33879"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360117"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330103"}],"container-title":["American Journal of Medical Genetics Part 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