Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

We describe the cases of two brothers with microcephaly, primary cutis vert icis gyrata of the scalp, prominent supraorbital ridges, large nose, hypert elorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineu ral hearing loss, kyphoscoliosis, and mental retardation, A review of the l iterature focusing on the major clinical findings suggests that our cases m ay represent a hitherto unreported new syndrome. (C) 2001 Wiley-Liss, Inc.