title: Knobloch syndrome involving midline scalp defect of the frontal region.
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.
authors.affiliation: F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montreal, Quebec, Canada.
authors.forename: L C
authors.initials: LC
authors.lastname: Sniderman
authors.forename: R K
authors.initials: RK
authors.lastname: Koenekoop
authors.forename: A M
authors.initials: AM
authors.lastname: O'Gorman
authors.forename: R H
authors.initials: RH
authors.lastname: Usher
authors.forename: M R
authors.initials: MR
authors.lastname: Sufrategui
authors.forename: B
authors.initials: B
authors.lastname: Moroz
authors.forename: G V
authors.initials: GV
authors.lastname: Watters
authors.forename: V M
authors.initials: VM
authors.lastname: Der Kaloustian
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D006801:Humans; D008297:Male; D012535:Scalp; D013577:Syndrome