title: Megalocornea-urticaria pigmentosa syndrome--a new syndrome?
abstract: We describe a Finnish boy with megalocornea, urticaria pigmentosa, mild delay in speech and motor development, and slightly dysmorphic facial features. The karyotype and the array-CGH analysis did not reveal any abnormalities. This combination of symptoms has not been reported previously suggesting this might be a new syndrome with an unknown etiology.
authors.affiliation: Väestöliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland. kristiina.avela@vaestoliitto.fi
authors.forename: Kristiina
authors.initials: K
authors.lastname: Avela
authors.forename: Reija
authors.initials: R
authors.lastname: Alen
authors.forename: Maria
authors.initials: M
authors.lastname: Huttunen
authors.forename: Olavi
authors.initials: O
authors.lastname: Pärssinen
mesh_terms: D003315:Cornea / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009693:Nucleic Acid Hybridization; D013577:Syndrome; D014582:Urticaria Pigmentosa / Q000150:complications*