Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder.
We report on a brother and a sister with congenital nystagmus, cone-rod dysfunction, high myopia, and aplasia cutis congenita on the midline of the scalp vertex. To our knowledge this familial oculocutaneous condition, transmitted as an autosomal recessive trait, has not been reported previously.
Gershoni-Baruch
R
R
Department of Human Genetics, Rambam Medical Center, Haifa, Israel.
Leibo
R
R
D000506:Alopecia Areata / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009679:Nuclear Family; D009759:Nystagmus, Pathologic / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells; D012164:Retinal Diseases / Q000235:genetics*; D017948:Retinal Rod Photoreceptor Cells