The Coffin-Siris syndrome. Description of 4 patients and a literature review
van Heyst, A.F.; Kollée, L.A.; Brunner, H.G.
Tijdschrift Voor Kindergeneeskunde 61(1): 28-33
1993
ISSN/ISBN: 0376-7442 PMID: 8493700 Document Number: 415321
Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.
Document emailed within 1 workday
Related Documents
Foasso, M.F.; Hermier, M.; Descos, B.; Collet, J.P.; Perron, F. 1983: Coffin-Siris syndrome. Critical study of the literature apropos of a case Pediatrie 38(2): 111-117Venura, A.; Ferrari, P.; Benci, E.; Grando, A. 1988: Coffin-Lowry syndrome. Description of a clinical case La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics 10(4): 449-450
Calvani, M.; Mazzoli, F.; Calvani, M. 1989: The SSS syndrome. Description of a case and review of the literature Minerva Pediatrica 41(7): 389-392
Bezlepkina, O.B.; Semicheva, T.V.; Iarovaia, I.S. 1994: Van Wyk-Grumbach syndrome in children (review of the literature with description of cases) Problemy Endokrinologii 40(4): 35-38
Niang, E.H.; Ndoye, O.; Diop, B.B.; Ba, S.A.; Badiane, M. 2005: Syndrome of "Coup de fouet". A case description and literature review Dakar Medical 50(3): 208-210
Gemme, G.; Bonioli, E.; Ruffa, G.; Sbolgi, P. 1978: Smith-Lemli-Opitz syndrome. Description of 2 cases and review of the literature Minerva Pediatrica 30(10): 805-810
Granata, A.; Nori, G.; Ravazzolo, R.; Marini, M.; Castellino, S.; Sicurezza, E.; Fiore, C.E.; Mignani, R. 2008: Nail-patella syndrome and renal involvement. Description of three cases and literature review Clinical Nephrology 69(5): 377-382
Mueller, R.A.; Auf der Maur, P.; Beck, E.A.; Deubelbeiss, K.; Bucher, U. 1982: The 5q syndrome--a chromosome aberration with characteristic hematologic picture: preleukemia? Literature review and description of a personal case Schweizerische Medizinische Wochenschrift 112(7): 242-252
Rosselli, A.; Landini, G.; Mugnaini, C.; Villari, N.; Pieragnoli, E. 1987: Pure erythrocytosis and elevated erythropoietin. Review of the literature and description of a clinical case complicated by Budd-Chiari syndrome Giornale di Clinica Medica 68(2): 103-106
Glenn, J.; Funkhouser, W.K.; Schneider, P.S. 1989: Acute illnesses necessitating urgent abdominal surgery in neutropenic cancer patients: description of 14 cases and review of the literature Surgery 105(6): 778-789
Larbcharoensub, N.; Aroonroch, R.; Kanoksil, W.; Leopairut, J.; Nitiyanant, P.; Khositseth, A.; Tangnararatchakit, K.; Chuansumrit, A.; Yoksan, S. 2011: Infection-associated hemophagocytic syndrome among patients with dengue shock syndrome and invasive aspergillosis: a case series and review of the literature Southeast Asian Journal of Tropical Medicine and Public Health 42(5): 1106-1112
Zen, F.; Motteran, F.; Pigaiani, R.; Bano, A.; Scicolone, G.; Vicentini, A. 1987: Leiomyosarcoma of the duodenum (description of a case and review of the literature) Chirurgia Italiana 39(5): 515-522
Demidova, A.V.; Charnyĭ, A.M.; Nagornaia, V.G.; Mishin, A.P.; Kuznetsova, E.E. 1987: Cytomegalovirus disease (a description of 2 cases and a review of the literature) Terapevticheskii Arkhiv 59(6): 93-97
Frezza, M.; Rinaldi, C.; Pozzato, G.; Terpin, M.M.; Marcuzzi, P.; Melato, M. 1987: Wegener's granulomatosis. Review of the literature and description of a case Giornale di Clinica Medica 68(11): 575-579
Glaus, T.; Jaggy, A. 1992: Ehrlichiosis in dogs: literature review and case description Schweizer Archiv für Tierheilkunde 134(7): 319-323
Mastrapasqua, G.; Scapinello, A.; Madia, D.; Zappalà, G.; Beltramello, G.; Virone, C.; Confortin, L.; Costa, F. 1993: Ischemic hepatitis. Description of 4 cases and review of the literature Minerva Gastroenterologica E Dietologica 39(2): 93-97
Ferrari, D.; Bertoni, F.; Bacchini, P.; Donzelli, O. 2004: Focal myositis. Description of a case and review of the literature La Chirurgia Degli Organi di Movimento 89(1): 75-79
Pedata, P.; Feola, D.; Laieta, M.T.; Garzillo, E.M. 2011: Peritoneal mesothelioma: description of a case and review of literature International Journal of Immunopathology and Pharmacology 24(1 Suppl): 85S-88S
Santoro, G.; Marioni, C.; Dolara, A.; Magi-Diligenti, L.; Cinelli, P. 1987: Coronary aneurysm. Review of the literature and description of 2 illustrative cases Minerva Cardioangiologica 35(1-2): 15-18
Ferrari, D.; Magnani, M.; Donzelli, O. 2005: Pyle's disease. A description of two clinical cases and a review of the literature La Chirurgia Degli Organi di Movimento 90(3): 303-307