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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.

Type

Journal article

Journal

Clin Dysmorphol

Publication Date

04/1994

Volume

3

Pages

132 - 138

Keywords

Abnormalities, Multiple, Cornea, Developmental Disabilities, Face, Female, Humans, Infant