Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome
Stoll, C.; Roth, M.P.; Levy, J.M.
Journal de Genetique Humaine 28(3): 299-304
1980
ISSN/ISBN: 0021-7743 PMID: 7463030 Document Number: 157491
A father and his daughter has the same features: short stature, the distal phalanges, the wrists, the elbows, the feet and the knees were flexed. All other joints had abnormal range of motion. Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant.
Document emailed within 1 workday
Related Documents
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): 315-320Cantú, J.M.; Gómez-Bustamente, M.O.; González-Mendoza, A.; Sánchez-Corona, J. 1978: Familial comedones. Evidence for autosomal dominant inheritance Archives of Dermatology 114(12): 1807-1809
Ibsen, H.H.; Clemmensen, O.J.; Brandrup, F. 1991: Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations Acta Dermato-Venereologica 71(4): 349-351
Collie, W.R.; Pagon, R.A.; Hall, J.G.; Shokeir, M.H. 1978: ACHOO syndrome (autosomal dominant compelling helio-ophthalmic outburst syndrome) Birth Defects Original Article Series 14(6b): 361-363
Le Merrer, M.; Verloes, A.; Narcy, P.; Briard, M.L. 1988: Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome) Journal de Genetique Humaine 36(3): 257-264
Gujrati, M.; Thomas, C.; Zelby, A.; Jensen, E.; Lee, J.M. 1998: Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature Surgical Neurology 50(2): 164-168
Weller, M.; Petersen, D.; Dichgans, J.; Klockgether, T. 1996: Cerebral angiography complications link cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy to familial hemiplegic migraine Neurology 46(3): 844
Vezzoli, G.; Arcidiacono, T.; Paloschi, V.; Terranegra, A.; Biasion, R.; Weber, G.; Mora, S.; Syren, M.Louise.; Coviello, D.; Cusi, D.; Bianchi, G.; Soldati, L. 2006: Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome Journal of Nephrology 19(4): 525-528
Frisch, H.; Vormittag, W. 1975: Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance Zeitschrift für Kinderheilkunde 120(2): 141-150
Golik, A.; Modai, D.; Pervin, R.; Marcus, E.L.; Fried, K. 1988: Autosomal dominant carpal tunnel syndrome in a Karaite family Israel Journal of Medical Sciences 24(6): 295-297
Hernando, I.; Benavides, A.; Plasencia, A.; Visus, E.P.; Bousoño, C.; Fernández Toral, J. 1988: Basan's syndrome: dominant autosomal hypohidrotic ectodermal dysplasia Anales Espanoles de Pediatria 28(4): 359-360
Endo, Y.; Koga, T.; Nakashima, M.; Mishima, H.; Yoshiura, K.-I.; Kawakami, A. 2019: Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations Clinical and Experimental Rheumatology 37 Suppl 121(6): 161-162
Bocian, M.; Rimoin, D.L. 1979: A new autosomal dominant syndrome of hypohidrotic ectodermal dysplasia and unusual facies Birth Defects Original Article Series 15(5b): 239-251
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
Hordijk, R.; Van de Logt, F.; Houtman, W.A.; Van Essen, A.J. 1996: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance Genetic Counseling 7(2): 113-122
Karakoc-Aydiner, E.; Baris, S.; Keles, S.; Ozdemir, C.; Chatila, T.; Barlan, I. 2013: Inhaled alpha1-antitrypsin administered to treat pneumatocele in autosomal dominant hyperimmunoglobulin e syndrome Journal of Investigational Allergology and Clinical Immunology 23(5): 359-361
Curry, C.J.; Hall, B.D. 1979: Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome Birth Defects Original Article Series 15(5b): 253-263
Pfeiffer, R.A.; Verbeck, C. 1973: Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance Zeitschrift für Kinderheilkunde 115(3): 235-244
Gonzalez, C.H.; Durkin-Stamm, M.V.; Geimer, N.F.; Shahidi, N.T.; Schilling, R.F.; Rubira, F.; Opitz, J.M. 1977: The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia Birth Defects Original Article Series 13(3b): 31-38
Dunnigan, M.G.; Cochrane, M.A.; Kelly, A.; Scott, J.W. 1974: Familial lipoatrophic diabetes with dominant transmission. a new syndrome Quarterly Journal of Medicine 43(169): 33-48