Knobloch syndrome involving midline scalp defect of the frontal region
✍ Scribed by Sniderman, Lisa C.; Koenekoop, Robert K.; O'Gorman, Augustin M.; Usher, Robert H.; Sufrategui, Maria R.; Moroz, Brenda; Watters, Gordon V.; Der Kaloustian, Vazken M.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 30 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.