{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074812,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,5]]},"abstract":"<jats:p>We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.<\/jats:p>","DOI":"10.1136\/jmg.27.5.333","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"333-336","source":"Crossref","is-referenced-by-count":21,"title":["The Coffin-Siris syndrome."],"prefix":"10.1136","volume":"27","author":[{"given":"Q H","family":"Qazi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L S","family":"Heckman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Markouizos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Verma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,5,1]]},"reference":[{"key":"ref_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernails and terminal phalanx","volume":"119","author":"Coffin, G.S.; Siris, E.","year":"1970","unstructured":"Coffin GS, Siris E. Mental retardation with absent fifth fingernails and terminal phalanx. Am J Dis Child 1970;119:433-9.","journal-title":"Am J Dis Child"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1001\/archpedi.1978.02120320027005","article-title":"The Coffin-Siris syndrome","volume":"132","author":"Carey, J.C.; Hall, B.D.","year":"1978","unstructured":"Carey JC, Hall BD. The Coffin-Siris syndrome. Am I Dis Child 1978;132:667-71.","journal-title":"Am I Dis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1001\/archpedi.1973.04160060048010","article-title":"Coffin-Siris syndrome","volume":"125","author":"Weiswasser, W.H.; Hall, B.D.; Delavan, G.W.; Smith, D.W.","year":"1973","unstructured":"Weiswasser WH, Hall BD, Delavan GW, Smith DW. Coffin-Siris syndrome. Am J Dis Child 1973;125:838-40.","journal-title":"Am J Dis Child"},{"key":"ref_4","first-page":"393","article-title":"The Coffin-Siris syndrome","volume":"132","author":"Tunnessen, W.W.; McMillan, J.A.; Levin, M.B.","year":"1978","unstructured":"Tunnessen WW, McMillan JA, Levin MB. The Coffin-Siris syndrome. Am J Dis Child 1978;132:393-5.","journal-title":"Am J Dis Child"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/S0022-3476(86)80288-8","article-title":"Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome","volume":"109","author":"Bodurtha, J.; Kessel, A.; Berman, W.; Hartenberg, M.","year":"1986","unstructured":"Bodurtha J, Kessel A, Berman W, Hartenberg M. Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. J Pediatr 1986;109:1015-7.","journal-title":"J Pediatr"},{"key":"ref_6","first-page":"385","article-title":"The Coffin-Siris syndrome: a case report","volume":"35","author":"Ueda, K.; Saito, A.; Nakano, H.; Linumo, K.","year":"1980","unstructured":"Ueda K, Saito A, Nakano H, Linumo K. The Coffin-Siris syndrome: a case report. Helv Paediatr Acia 1980;35:385-90.","journal-title":"Helv Paediatr Acia"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00972041","article-title":"The Coffin-Siris syndrome: a report of four cases and review of the literature","volume":"11","author":"Lucaya, J.; Garcia-Conesa, J.A.; Bosch-Banyeras, J.M.; Pons-Peradejordi, G.","year":"1981","unstructured":"Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G. The Coffin-Siris syndrome: a report of four cases and review of the literature. Pediatr Radiol 1981;11:35-8.","journal-title":"Pediatr Radiol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1111\/j.1651-2227.1979.tb05037.x","article-title":"The Coffin-Siris syndrome","volume":"68","author":"Schinzel, A.","year":"1979","unstructured":"Schinzel A. The Coffin-Siris syndrome. Acta Paediatr Scand 1979;68:449-52.","journal-title":"Acta Paediatr Scand"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1001\/archneur.1985.04060040060012","article-title":"Coffin-Siris syndrome: neuropathologic findings","volume":"42","author":"DeBassio, W.A.; Kemper, T.L.; Knoefel, J.E.","year":"1985","unstructured":"DeBassio WA, Kemper TL, Knoefel JE. Coffin-Siris syndrome: neuropathologic findings. Arch Neurol 1985;42:350-3.","journal-title":"Arch Neurol"},{"key":"ref_10","first-page":"12","article-title":"The Coffin-Siris syndrome","volume":"139","author":"Coffin, G.S.; Siris, E.","year":"1985","unstructured":"Coffin GS, Siris E. The Coffin-Siris syndrome. Am _7 Dis Chhild 1985;139: 12.","journal-title":"Am _7 Dis Chhild"},{"key":"ref_11","first-page":"1044","article-title":"Coffin-Siris syndrome","volume":"132","author":"Barber, N.; Say, B.","year":"1978","unstructured":"Barber N, Say B. Coffin-Siris syndrome. Am 7 Dis Child 1978;132: 1044.","journal-title":"Am 7 Dis Child"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.1320080310","article-title":"Brief clinical report. Coffin-Lowry syndrome in sibs","volume":"8","author":"Mattei, J.F.; Laframboise, R.; Rouault, F.; Giraud, F.","year":"1981","unstructured":"Mattei JF, Laframboise R, Rouault F, Giraud F. Brief clinical report. Coffin-Lowry syndrome in sibs. 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Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. ] Pediatr 1984;104:391-4."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1111\/j.1399-0004.1984.tb01074.x","article-title":"The Coffin-Siris syndrome: report of a family and further delineation","volume":"26","author":"Haspeslagh, M.; Fryns, J.P.; van den Berghe, H.","year":"1984","unstructured":"Haspeslagh M, Fryns JP, van den Berghe H. The Coffin-Siris syndrome: report of a family and further delineation. Clin Genet 1984;26:374-8.","journal-title":"Clin Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1007\/BF02386876","article-title":"The Coffin-Siris syndrome in two siblings","volume":"16","author":"Franceschini, P.; Cirillo Silengo, M.; Bianco, R.; Biagioli, M.; Guala, A.; Lopez Bell, G.","year":"1986","unstructured":"Franceschini P, Cirillo Silengo M, Bianco R, Biagioli M, Guala A, Lopez Bell G. 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