The Rubinstein-Taybi syndrome of men tal retardation, broad thumbs and great toes, delayed linear growth, peculiar facies and other malformations is here described. The authors hypothesize that this newly de scribed syndrome and that of Smith-Lemli- Opitz represent the same genetic abnor mality.
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References
1.
Rubinstein, J.H. and Taybi, H.: Broad thumbs and toes and facial abnormalities . Amer. J. Dis. Child.105: 588, 1963 .
2.
Coffin, G.S. : Brachydactyly, peculiar facies and mental retardation. Amer. J. Dis. Child.108: 351, 1964 .
3.
Silver, H.K. : Asymmetry, short stature and variations in sexual development. Amer. J. Dis. Child.107: 495, 1964 .
4.
Smith, D.W.: Compendium on shortness of statture. J. Pediat.70: 463, 1967.
5.
Robinson, G.R. , Miller. J.R., Cook . E.G. and Tiscliler , B.: Broad thumbs and toes and mental retardation. Amer. J. Dis. Child.111: 287, 1966.
6.
Kushnick, T. : Brachydactyly, facial abnormalities, and mental retardation. Amer. J. Dis. Child.111: 96, 1966.
7.
Johnson, C.F. : Broad thumbs and great toes with facial abnormalities . J. Pediat.68: 942, 1966.
8.
Taybi, H. and Rubinstein, J.H. : Broad thumbs and toes, and unusual facial features. J. Roent., Rad. Ther.. and Nuc. Med.93: 362, 1965.
9.
Smith, D.W., Lemli, L. and Opitz, J.M.: A newly recognized syndrome of multiple congenital anomalies. J. Pediat.64: 210, 1964.
10.
Pinksy, L. and Di George, A.M.: A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female. J. Pediat.66: 1049, 1965.
11.
Blair, R.K. and Martin, J.K.: A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. J. Pediat.69: 457, 1966.
12.
Dallaire, L. and Fraser, F.C.: The syndrome of retardation with urogenital and skeletal anomalies in siblings. J. Pediat.69: 459. 1966.
