Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius - the TAR syndrome

Human Heredity

Volumn 27, Issue 2, 1977, Pages 147-152

  Boelskov Edelberg, Susanne ^a   Cohn, J ^a   Brandt, N J ^a  

^a University of Copenhagen   (Denmark)

Author keywords

Absent radii; Dermatoglyphics; Familial occurrence; TAR syndrome; Thrombocytopenia

Indexed keywords

AMEGAKARYOCYTIC THROMBOCYTOPENIA; BONE AGENESIS; DIAGNOSIS; GENETIC COUNSELING; LIMB MALFORMATION; MAJOR CLINICAL STUDY; RADIUS; RADIUS APLASIA; SKELETON MALFORMATION; SYNDROME TAR; THROMBOCYTOPENIA;

ABNORMALITIES, MULTIPLE; CASE REPORT; CHILD; DERMATOGLYPHICS; FEMALE; HUMAN; MALE; RADIUS; SYNDROME; THROMBOCYTOPENIA;

EID: 0017378028     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000152864     Document Type: Article

References (4)

1. Dignan, P.S.J.; Mauer, A.M., and Frantz, C.: Phocomelia with congenital hypoplastic thrombocytopenia and myeloid leukemoid reactions. J. Pediat. 70: 561 (1967).
2. Hall, J.G.; Levin, J.: Kuhn, J.P.; Ottenheimer, E.J.; van Berkum, K.A.P., and McKusick, V.A.: Thrombocytopenia with absent radius (TAR). Medicine 48: 411- 439 (1969).
3. Holt, S.B.: The effect of absence of thumb on palmar dermatoglyphics. J. Med. Genet. 9: 448-450 (1972).
4. Schaumann, B. and Alter, M.: Dermatoglyphics in medical disorders (Springer, New York 1976).