Dyskeratosis congenita: An autosomal recessive variant

We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly de scribed in males with DKC, have been reported in another female patient wit h this condition, and may represent the phenotype of an autosomal recessive entity of DKC, Results of X chromosome inactivation studies did not suppor t X-linked DKC in our family, The additional findings of an affected brothe r and parental consanguinity support the hypothesis of autosomal recessive inheritance. (C) 1999 Wiley-Liss, Inc.