title: Megalocornea, developmental retardation and dysmorphic features: two further patients.
abstract: Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reported cases of megalocornea/mental retardation and may help to define one subtype of this heterogeneous group of conditions.
authors.affiliation: Department of Ophthalmology, Hospital for Sick Children, London, UK.
authors.forename: M L
authors.initials: ML
authors.lastname: Gibbs
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: D
authors.initials: D
authors.lastname: Taylor
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D003315:Cornea / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000503:physiopathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant