Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling
Martello, C.; Stangoni, G.; Mezzetti, D.; Calabro, A.; Cianfrini, D.; Lungarotti, M.S.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 14(4): 465-468
1992
ISSN/ISBN: 0391-5387 PMID: 1461791 Document Number: 402218
The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.
Document emailed within 1 workday
Related Documents
Del Vecchio, M.; Cerillo, A.; Ghetti, B.; Amati, A.; Signorelli, C.; Cedrola, G.; Guazzi, G.C. 1971: Genetic study of 2 families (23 subjects) with von Recklinghausen's disease with dominant autosomal heredity Acta Neurologica 26(3): 319-360Serratrice, G.; Pellissier, J.F. 1988: 2 families with benign myopathy predominantly on the limb girdle with dominant autosomal heredity Revue Neurologique (Paris) 144(1): 43-46
Jasik, P.; Sułowicz, W.; Kraśniak, A.; Stompór, T. 1998: Current opinions on the etiology and pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). II. Factors other than genetic factors which have an influence on disease course and selected clinical problems Przeglad Lekarski 55(11): 599-606
Tay, J.S.; Yip, W.C. 1982: Computers in paediatrics. 3. Genetic counselling for autosomal dominant conditions Journal of the Singapore Paediatric Society 24(3-4): 133-137
Karnolski, I.N. 2002: Inherited autosomal dominant polycystic kidney disease--genetic polymorphism Folia Medica 44(4): 7-9
Sessa, A.; Ghiggeri, G.M.; Turco, A.E. 1997: Autosomal dominant polycystic kidney disease: clinical and genetic aspects Journal of Nephrology 10(6): 295-310
Tóth, T.; Nagy, B. 1997: Molecular genetic study of type i autosomal dominant polycystic kidney disease Orvosi Hetilap 138(41): 2638
Milutinovic, J.; Fialkow, P.J.; Phillips, L.A.; Agoda, L.Y.; Bryant, J.I.; Denney, J.D.; Rudd, T.G. 1980: Autosomal dominant polycystic kidney disease: early diagnosis and data for genetic counselling Lancet 1(8180): 1203-1206
Karlsson, E.; Groop, L. 2007: MODY--an autosomal dominant type of diabetes. Diagnosis via genetic testing results in better treatment Lakartidningen 104(37): 2600-2602
Zhang, W-li.; Mei, C-lin. 2006: Genetic heterogeneity and phenotypes of autosomal dominant polycystic kidney disease in Chinese Han nationality Zhonghua Yi Xue Za Zhi 86(22): 1516-1521
Plauchu, H. 1994: Single-factor heredity. Construction and interpretation of a genealogical tree. Principles of genetic counseling La Revue du Praticien 44(19): 2627-2635
Stefanova, M.; Valkova, G.; Krustev, T.; Shishkova, N. 1990: Problems of genetic counseling in the presence of supernumerary marker chromosomes (case reports and a review of publications) Folia Medica 32(2): 29-33
Knoblauch, H.; Urban, M.; Tinschert, S. 1999: Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters Genetic Counseling 10(3): 315-320
De Arriba de la Fuente, G.; García Martín, F.; Sánchez Ortega, F.; Sánchez Heras, M.; Parra Cid, T.; Blanco Santos, A.; Jarillo Ibáñez, M.D. 1995: Autosomal dominant polycystic kidney disease. a comparative genetic and clinico-radiological study between patients with normal renal function and their healthy relatives Revista Clinica Espanola 195(9): 600-607
Budd, D.C.; Fink, D.L. 1982: Autosomal dominant mucoid colon carcinoma: a study of a case and a kindred American Surgeon 48(4): 180-183
Sugimoto, T.; Kume, S.; Osawa, N.; Isshiki, K.; Kanasaki, K.; Tanaka, Y.; Chin, M.; Shibuya, K.; Sakaguchi, M.; Araki, S.-i.; Isono, M.; Koya, D. 2005: Case of autosomal dominant polycystic kidney disease associated with congenital hepatic fibrosis Nihon Jinzo Gakkai Shi 47(4): 463-467
Munemura, C.; Noguchi, K.; Yamamoto, S.; Murawaki, Y.; Uemasu, J.; Godai, K. 2005: Case of autosomal dominant polycystic kidney disease presenting hepatic encephalopathy Nihon Jinzo Gakkai Shi 47(4): 458-462
Labat, J.P. 1972: 2 cases of spondylo-metaphysial dysostosis: Mürk Jansen's disease and Schmidt's disease Bordeaux Medical 5(12): 1419-1426
Wesołowski, W.; Dziewulska, D.; Koziarska, M.; Iżycka-Świeszewska, E. 2015: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - literature review apropos an autopsy case Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists 66(3): 323-329
Ensink, R.J.; Brunner, H.G.; Cremers, C.W. 1997: A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait Genetic Counseling 8(4): 285-290