Summary
Two sibs with TAR syndrome and whose parents are blood relatives are described. To our knowledge this is the first report of consanguinity in TAR syndrome.
Similar content being viewed by others
References
Aldenhoff P, Waldenmaier C (1979) Klinische Genetik in der Pädiatrie. In: Tolksdorf M, Spranger J (eds) I. Symposion, Kiel. Thieme, Stuttgart New York, pp 66–69
Dignan PStJ, Maurer AM, Frantz C (1967) Phocomelia with congenital hypoplastic thrombocytopenia and myeloid reactions. J Pediatr 70:561–573
Emery JL, Gordon RR, Rendle-Short J, Varadi S, Warrack AJN (1957) Congenital amegakaryocytic thrombocytopenia with congenital deformities and a leukemoid blood picture in the newborn. Blood 12:567–576
Gross H, Groh CH, Weipel G (1956) Kongenitale hypoplastische thrombopenie mit Radiusaplasie. Ein Syndrom multipler Abartungen. Neue Österr Z Kinderheilkd I:574–582
Haarmann M, Lenz W, Petersen D (1975) Radiusaplasie mit Thrombozytopenie. Ergeb Inn Med Kinderheilkd 37:57–106
Hall JG (1979) Thrombocytopenia with absent radius. In: Bergsma D (ed) Birth defects compendium. Macmillan, New York Toronto London, p 1016
Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, Berkum KAP, McKusick VA (1961) Thrombocytopenia with absent radius (TAR). Medicine 48:411–439
Hays RM, Bartoshesky LE, Feingold M (1982) New features of thrombocytopenia and absent radius syndrome. Birth Defects 18:115–121
Herrmann J, Opitz JM (1977) The SC-phocomelia and the Robert's syndrome: nosologic aspects. Eur J Pediatr 125:117–134
Lenz W (1973) Phenocopies. J Med Genet 10:34–49
Luthy DA, Hall JG, Graham CB (1979) Prenatal diagnosis of thrombocytopenia with absent radii. Clin Genet 15:495–499
McKusick VA (1978) Mendelian inheritance in man, 5th edn. Johns Hopkins University Press, Baltimore, p 684
Nilson LR, Lundholm G (1960) Congenital thrombocytopenia associated with aplasia of the radius. Acta Paediatr 49:291–296
Pfeiffer RA, Maintz G (1973) Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia. Humangenetik 17:175–178
Ray R, Zorn E, Kelly T, Hall JG, Sommer A (1980) Brief clinical report: lower limb anomalies in thrombocytopenia absent-radius (TAR) syndrome. Am J Med Genet 7:523–528
Shaw S, Oliver RAM (1959) Congenital hypoplastic thrombocytopenia with skeletal deformities in siblings. Blood 14:374–377
Temtamy SA, McKusick VA (1978) The genetics of hand malformations. Birth Defects 14:106–113
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Teufel, M., Enders, H. & Dopfer, R. Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome. Hum Genet 64, 94–96 (1983). https://doi.org/10.1007/BF00289487
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00289487