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We have experienced a case of Cornelia de Lange syndrome in a girl of 4.5/12 years old.
She showed typical features of a microbrachycephaly, hirsuitism and characteristic face with bushy eyebrows,
antimongolian slant depressed nasal bridge, thin protruding lips with downtuming of the comers and the microtia.
She also had severe retardation in growth and mental development.
The diagnosis was established by typical clinical... |
