{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:55:47Z","timestamp":1790394947477,"version":"4.1.0"},"reference-count":5,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,10]]},"abstract":"<jats:p>Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.<\/jats:p>","DOI":"10.1136\/jmg.33.10.884","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"884-886","source":"Crossref","is-referenced-by-count":25,"title":["Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)."],"prefix":"10.1136","volume":"33","author":[{"given":"R","family":"Mingarelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Castriota Scanderbeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/ajmg.1320330210","article-title":"Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs","volume":"33","author":"Carnevale, F.; Krajewska, G.; Fischetto, R.; Grego, M.G.; Bonvino, A.","year":"1989","unstructured":"Carnevale F, Krajewska G, Fischetto R, Grego MG, Bonvino A. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am _J Med Genet 1989;33:186-9.","journal-title":"Am _J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jmg.25.1.47","article-title":"Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)","volume":"25","author":"Oley, C.; Baraitser, M.","year":"1988","unstructured":"Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet 1988; 25:47-51.","journal-title":"J Med Genet"},{"key":"ref_3","first-page":"34751","article-title":"Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome","volume":"4","author":"Philip, N.; Andrac, L.; Moncla, A.","year":"1995","unstructured":"Philip N, Andrac L, Moncla A, et al. Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. Clin Dysmorphol 1995;4:34751.","journal-title":"Clin Dysmorphol"},{"key":"ref_4","first-page":"335","article-title":"Teebi hypertelorism syndrome: report of a third family","volume":"3","author":"Toriello, H.V.; Delp, K.","year":"1994","unstructured":"Toriello HV, Delp K. Teebi hypertelorism syndrome: report of a third family. Clin Dysmorphol 1994;3:335-9.","journal-title":"Clin Dysmorphol"},{"issue":"2","key":"ref_5","first-page":"380","article-title":"Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation","volume":"11","author":"Morillo-Gucci, G.; Passarge, E.; Simpson, J.L.; Chaganti, R.S.K.; German, J.","year":"1975","unstructured":"Morillo-Gucci G, Passarge E, Simpson JL, Chaganti RSK, German J. Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation. Birth Defects 1975;11(2):380-3.","journal-title":"Birth Defects"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.10.884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:52:04Z","timestamp":1760730724000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.10.884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,10]]},"references-count":5,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1996,10,1]]},"published-print":{"date-parts":[[1996,10]]}},"alternative-id":["10.1136\/jmg.33.10.884"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.10.884","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,10]]}}}