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Costello syndrome

Costello syndrome

American Journal of Medical Genetics 41(1): 69-73

In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.

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Accession: 007165622

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PMID: 1951465

DOI: 10.1002/ajmg.1320410118

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