Abstract
Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism.
References
1.
Baron D.N.
,
Dent C.E.
,
Harris H.
,
Hart E.W.
, &
Jepson J.B.
(1956 ) Lancet ii , 421 –428
2.
Bloom D.
(1966 ) Journal of Pediatrics 68 , 103
3.
Cockayne E.A.
(1946 ) Archives of Disease in Childhood 21 , 52
4.
Louis-Bar D.
(1941 ) Confinia neurologica 4 , 32
5.
Rook A.
,
Davis R.
, &
Stevanovic D.
(1959 ) Acta dermato-venereologica 39 , 392
6.
Stanbury J.B.
,
Wyngaarden J.B.
, &
Fredrickson D.S.
(1966 ) The Metabolic Basis of Inherited Disease. 2nd edn. McGraw-Hill , New York
7.
Tada K.
,
Ito H.
,
Wada Y.
, &
Arawaka T.
(1963 ) Tohoku Journal of Experimental Medicine 80 , 118 –134