Holt-Oram syndrome
Elek, C.; Vitéz, M.; Czeizel, E.
Orvosi Hetilap 132(2): 73
1991
ISSN/ISBN: 0030-6002 PMID: 1996196 Document Number: 373332
Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).
Document emailed within 1 workday
Related Documents
Zergollern, L.; Vukadinović, S.; Begović, D.; Kuraica, N. 1979: Holt-Oram syndrome Lijecnicki Vjesnik 101(4): 229-233Walter, H.; Frank, A.; Kambhu, C. 1974: The Holt-Oram syndrome Zeitschrift für Kardiologie 63(1): 1-16
Rozenberg, V.D. 1979: Holt-Oram syndrome Pediatriia 5: 72
Martin, C.; Babin, J.P.; San Juan, B.; Hehunstre, J.P. 1970: A case of Holt-Oram syndrome Bordeaux Medical 3(10): 2464
Picchio, F.M.; Baccarani, G.; Bonvicini, M.; Magnani, B. 1976: The Holt-Oram syndrome: report of a case Giornale Italiano di Cardiologia 6(8): 1416-1422
Kejariwal, V.K.; Misra, P.K.; Kumar, A.; Awasthi, S. 1989: Holt-Oram syndrome with polydactyly and ostium primum defect Indian Pediatrics 26(10): 1064-1065
Bonnet, D.; Terrett, J.; Pequignot-Viegas, E.; Weissenbach, J.; Munnich, A.; Lyonnet, S.; Kachaner, J. 1995: Gene localisation in 12q12 in Holt-Oram atrio-digital syndrome Archives des Maladies du Coeur et des Vaisseaux 88(5): 661-666
Augustin, C.E.; Laurenceau, J.L.; Paquet, E.; Dagenais, G.R. 1975: Genetic implications in the cardio-osseus malformation (Holt-Oram syndrome) L'Union Medicale du Canada 104(4): 539-543
Solit, R.W.; Smullens, S.N.; Templeton, J.Y. 1973: Congenital heart disease and upper extremity defects. A case report (Holt-Oram syndrome) Journal of Cardiovascular Surgery 14(1): 76-80
Simmons, J.W.; Aprill, C.N.; Dwyer, A.P.; Brodsky, A.E. 1988: A reassessment of Holt's data on: "The question of lumbar discography" Clinical Orthopaedics and Related Research 1988(237): 120-124
Camurati, P. 1990: A study of control and defense mechanisms in the Rorschach test using the method of R. Holt in schizophrenic subjects Minerva Psichiatrica 31(3): 133-139
Francis Likis 2005: Do Higher Weight And BMI Increase The Risk Of Oral Contraceptive Failure?: Holt VL, Scholes D, Wicklund KG, Cushing-Haugen KL, Daling JR. Body mass index, weight, and oral contraceptive failure risk. Obstet Gynecol 2005;105:4652 Journal of Midwifery and Women's Health 50(3): 251-251
Verloes, A.; Lesenfants, S.; Philippet, B.; Iyawa, A.; Laloux, F.; Koulischer, L. 1996: Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome Genetic Counseling 7(4): 277-282
Takatsu, T.; Nagao, H.; Uehara, H.; Hanamoto, S.; Tanaka, T. 1976: Wolff-Parkinson-White syndrome--classification and diagnosis of pre-excitation syndrome and Lown-Ganong-Levine syndrome Nihon Rinsho. Japanese Journal of Clinical Medicine 34(9): 2768-2787
Reichenbach, H.; Hörmann, D.; Theile, H. 1993: A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome Kinderarztliche Praxis 61(4-5): 161-167
Al-Mayouf, S. 2005: The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy Saudi Medical Journal 26(7): 1161; Author Reply 1161-2
Narbay, G.; Meire, F.; Verloes, A.; Casteels, I.; Devos, E. 1996: Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases Bulletin de la Societe Belge d'Ophtalmologie 261: 65-70
Gernez, A. 1949: Sideropic Dysphagia and Esophageal Membranes; Plummer and Vinson Syndrome; Kelly and Paterson Syndrome; Waldenstrom and Kjellberg Syndrome La Presse Medicale 57(26): 362-364
Barraquer Bordás, L. 1990: The "biparietal rejection syndrome" versus "environmental dependency syndrome" and Kluver-Bucy syndrome Archivos de Neurobiologia 53(1): 57-59
Joseph, A.B. 1986: Cotard's syndrome in a patient with coexistent Capgras' syndrome, syndrome of subjective doubles, and palinopsia Journal of Clinical Psychiatry 47(12): 605-606