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Review
. 2000 Jan 17;90(2):146-9.

Knobloch syndrome involving midline scalp defect of the frontal region

L C Sniderman  1 , R K Koenekoop, A M O'Gorman, R H Usher, M R Sufrategui, B Moroz, G V Watters, V M Der Kaloustian
Affiliations
  • PMID: 10607954
Review

Knobloch syndrome involving midline scalp defect of the frontal region

L C Sniderman et al. Am J Med Genet. .

Abstract

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.

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