PubMed:10607954 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10607954","sourcedb":"PubMed","sourceid":"10607954","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10607954","text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe 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 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