van den Ende-Gupta Syndrome: Evidence for Genetic Heterogeneity

van den Ende-Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands and feet. Growth and development are normal. To date only 11 patients, from 8 families, have been described. Autosomal recessive inheritance has been accepted in this condition, supported by the presence of consanguinity in three families and the recurrence of the disorder within the offspring of unaffected couples. In this article we report on a kindred with three affected individuals, two brothers and their half-sister, in which the van den Ende-Gupta syndrome is probably transmitted as an autosomal dominant trait in connection with gonadal mosaicism. (C) 2009 Wiley-Liss, Inc.