Megalocornea, developmental retardation and dysmorphic features: two further patients.
Gibbs ML., Wilkie AO., Winter RM., Taylor D., Baraitser M.
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.