{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:40:16Z","timestamp":1760766016265,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:p>We report on two severely mentally retarded male children of consanguineous parents who seem to be affected by an identical syndrome. The main physical anomalies are typical facial stigmata with a broad nasal bridge, a bulbous nose, upward slanting palpebral fissures, microretrognathia, low hair line, and large ears with an incompletely developed upper helix. In addition, both brothers had hypospadias type II, limb contractures, and delayed bone age. One child had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus. Chromosome analysis showed a normal karyotype in both. The striking similarity between the brothers, the dissimilarity to other known syndromes, and the parental consanguinity argue in favour of a new, hitherto undescribed, possibly autosomal recessive syndrome.<\/jats:p>","DOI":"10.1136\/jmg.31.1.65","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"65-67","source":"Crossref","is-referenced-by-count":1,"title":["Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?"],"prefix":"10.1136","volume":"31","author":[{"given":"G","family":"Wolff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Zimmermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Zimmerhackl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Harnasch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Jung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Back","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/ajmg.1320280203","article-title":"Editorial comment. G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or 'Opitz-Frias' or 'Opitz-G' syndrome): perspective in 1987 and bibliography","volume":"28","author":"Opitz, J.M.","year":"1987","unstructured":"Opitz JM. Editorial comment. G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or 'Opitz-Frias' or 'Opitz-G' syndrome): perspective in 1987 and bibliography. Am Jf Med Genet 1987;28:275-85.","journal-title":"Am Jf Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ajmg.1320280207","article-title":"The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes","volume":"28","author":"Cappa, M.; Borelli, P.; Marini, R.; Neri, G.","year":"1987","unstructured":"Cappa M, Borelli P, Marini R, Neri G. The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes. 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Birth Defects 1977;XIII(3b):69-84.","journal-title":"Birth Defects"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/ajmg.1320200409","article-title":"A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/ MR) syndrome with fronto-nasal dysostosis, cleft lip\/ palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome","volume":"20","author":"Richieri-Costa, A.; Colletto, G.M.D.D.; Gollop, T.R.; Masiero, D.","year":"1985","unstructured":"Richieri-Costa A, Colletto GMDD, Gollop TR, Masiero D. A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/ MR) syndrome with fronto-nasal dysostosis, cleft lip\/ palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. Am J Med Genet 1985;20:631-8.","journal-title":"Am J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/ajmg.1320200203","article-title":"Maleto-male transmission of the hypertelorism-hypospadias (BBB) syndrome","volume":"20","author":"Stoll, C.; Geraudel, A.; Berland, H.; Roth, M.P.; Dott, B.","year":"1985","unstructured":"Stoll C, Geraudel A, Berland H, Roth MP, Dott B. Maleto-male transmission of the hypertelorism-hypospadias (BBB) syndrome. Am J Med Genet 1985;20:221-5.","journal-title":"Am J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/ajmg.1320160405","article-title":"A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome with growth failure, lip\/palate cleft(s), and urogenital anomalies","volume":"16","author":"Malpuech, G.; Demeocq, F.; Palcoux, J.B.; Vanlieferinghen, P.","year":"1983","unstructured":"Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P. A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome with growth failure, lip\/palate cleft(s), and urogenital anomalies. Am J Med Genet 1983;16:475-80.","journal-title":"Am J Med Genet"},{"issue":"2","key":"ref_10","first-page":"443","article-title":"GG-oligophrenic, low birthweight dwarfism in sibs","volume":"11","author":"Lindstrom, J.A.","year":"1975","unstructured":"Lindstrom JA. GG-oligophrenic, low birthweight dwarfism in sibs. 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