Cornelia de lange syndrome
Patient (condition)
 
Aliases:
De Lange Syndrome
Brachmann-De Lange Syndrome
Typus Degenerativus Amstelodamensis
De Lange's Syndrome

Topic aliases are alternate phrasings for a particular topic.


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A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
www.nlm.nih.gov/cgi/mesh/...

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Patients present with developmental delay, distinct facial features, GORD, and frequently cleft palette abnormalities and congenital cardiac-defects.

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