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We have experienced a case of Cornelia de Lange syndrome in 21 day old female.
She showed typical clinical features of a microbrachycephaly, hirsutism and characteristic face-
with low forehead bushy eyebrows, antimongolian slant, large and depressed bridge of nose,
thin protruding lips with downturning of the corners and micrognathia.
She had also skeletal, dermatoglyphic and chromosomal abnormalities.
The diagnosis was established by clinical,... |