Megalocornea, developmental retardation and dysmorphic features: two further patients.
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.
Gibbs
M L
ML
Department of Ophthalmology, Hospital for Sick Children, London, UK.
Wilkie
A O
AO
Winter
R M
RM
Taylor
D
D
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D003315:Cornea / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000503:physiopathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant