Megalocornea-urticaria pigmentosa syndrome--a new syndrome?
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.
Avela
Kristiina
K
Väestöliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland. kristiina.avela@vaestoliitto.fi
Alen
Reija
R
Huttunen
Maria
M
Pärssinen
Olavi
O
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*