{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:28:00Z","timestamp":1790972880095,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,9]]},"abstract":"<jats:p>We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.<\/jats:p>","DOI":"10.1136\/jmg.34.9.736","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"736-740","source":"Crossref","is-referenced-by-count":10,"title":["Unusual traits associated with Robinow syndrome."],"prefix":"10.1136","volume":"34","author":[{"given":"M A","family":"Sabry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E A","family":"Ismail","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"al-Naggar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N A","family":"al-Torki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Farah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S A","family":"al-Awadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Obenbergerova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Bastaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,9,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1994","unstructured":"McKusick VA. Mendelian inheritance in man. 1 1th ed. Baltimore: Johns Hopkins University Press, 1994.","edition":"1 1th ed"},{"issue":"117","key":"ref_2","first-page":"645","article-title":"A newly recognised dwarfing syndrome","volume":"1969","author":"Robinow, M.; Silverman, F.N.; Smith, H.D.","unstructured":"Robinow M, Silverman FN, Smith HD. A newly recognised dwarfing syndrome. AmJtDis Child 1969;117:645-51.","journal-title":"AmJtDis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1097\/00019605-199307000-00001","article-title":"The Robinow (fetal face) syndrome: a continuing puzzle","volume":"2","author":"Robinow, M.","year":"1993","unstructured":"Robinow M. The Robinow (fetal face) syndrome: a continuing puzzle. Clin Dysmorphol 1993;2: 189-98.","journal-title":"Clin Dysmorphol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1001\/archpedi.1982.03970430026007","article-title":"Male to male transmission of Robinow syndrome. Its occurence in association with cleft lip and cleft palate","volume":"136","author":"Shprintzen, R.J.; Goldberg, R.B.; Saenger, P.; Sidoti, E.J.","year":"1982","unstructured":"Shprintzen RJ, Goldberg RB, Saenger P, Sidoti EJ. Male to male transmission of Robinow syndrome. Its occurence in association with cleft lip and cleft palate. Am.7 Dis Child 1982;136:594-7.","journal-title":"Am.7 Dis Child"},{"key":"ref_5","first-page":"202","article-title":"Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome)","volume":"126","author":"Waldington, W.B.; Tucker, V.L.; Schimke, R.N.","year":"1973","unstructured":"Waldington WB, Tucker VL, Schimke RN. Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). Am T Dis Child 1973;126:202-5.","journal-title":"Am T Dis Child"},{"key":"ref_6","first-page":"897","article-title":"Robinow syndrome associated with deafness","volume":"50","author":"Samoud, A.; Menif, K.; Boulaares, M.; Ben Bridi, M.F.","year":"1993","unstructured":"Samoud A, Menif K, Boulaares M, Ben Bridi MF. Robinow syndrome associated with deafness. Arch Fr Pediatr 1993;50:897-9.","journal-title":"Arch Fr Pediatr"},{"key":"ref_7","first-page":"586","article-title":"Robinow syndrome in two siblings from consanguineous parents","volume":"151","author":"Shorderet, D.F.; Dahoun, S.; Defrance, I.; Nussle, D.; Morris, M.A.","year":"1992","unstructured":"Shorderet DF, Dahoun S, Defrance I, Nussle D, Morris MA. Robinow syndrome in two siblings from consanguineous parents. Eur_7 Pediatr 1992;151:586-9."},{"key":"ref_8","first-page":"481","article-title":"Robinow syndrome: report of two patients with cystic kidney disease","volume":"376","author":"Wiens, L.; Strickland, D.K.; Sniffen, B.; Warady, B.A.","year":"1990","unstructured":"Wiens L, Strickland DK, Sniffen B, Warady BA. Robinow syndrome: report of two patients with cystic kidney disease. Clin Genet 1990;376:481-4.","journal-title":"Clin Genet"},{"key":"ref_9","first-page":"199","article-title":"Robinow syndrome with special emphasis on dermatoglyphics and hand malformations (split hand)","volume":"2","author":"Balci, S.; Ercal, M.D.; Say, B.; Atasu, M.","year":"1993","unstructured":"Balci S, Ercal MD, Say B, Atasu M. Robinow syndrome with special emphasis on dermatoglyphics and hand malformations (split hand). Clin Dysnzorphol 1993;2:199-207.","journal-title":"Clin Dysnzorphol"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/ajmg.1320370418","article-title":"Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome?","volume":"37","author":"Webber, S.A.; Wargowski, D.S.; Chitayat, D.; Sandor, G.G.","year":"1990","unstructured":"Webber SA, Wargowski DS, Chitayat D, Sandor GG. Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome? Am _7 Med Genet 1990;37:519-21.","journal-title":"Am _7 Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.9.736","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:05:40Z","timestamp":1760735140000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.9.736"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,9]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1997,9,1]]},"published-print":{"date-parts":[[1997,9]]}},"alternative-id":["10.1136\/jmg.34.9.736"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.9.736","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,9]]}}}