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 involvement of the frontal bone as documented by a computed tomography (CT) scan.
The brain was normal on CT scan and magnetic resonance imaging.
We present a review of the 23 published cases with this syndrome.
Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present.. 
