Costello syndrome
- 1 October 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (1) , 69-73
- https://doi.org/10.1002/ajmg.1320410118
Abstract
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.Keywords
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- New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndromeAmerican Journal of Medical Genetics, 1986
- Noonan syndrome: A reviewAmerican Journal of Medical Genetics, 1985
- The Noonan syndromeAmerican Journal of Medical Genetics, 1985