Knobloch syndrome involving midline scalp defect of the frontal region

We report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high -arched palate. He, also has a defect of the anterior midline scalp with in volvement of the frontal bone as documented by a computed tomography (CT) s can. The brain was normal on CT scan and magnetic resonance imaging. We pre sent a review of the 23 published cases with this syndrome. Our patient ill ustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present. Am, J. Med, Genet. 90:146-149, 2000. (C) 2000 Wiley-Liss, Inc.