Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype
Fryns, J.P.; Vogels, A.; Haegeman, J.; Eggermont, E.; van den Berghe, H.
Genetic Counseling 5(4): 337-343
1994
ISSN/ISBN: 1015-8146 PMID: 7888135 Document Number: 430615
In this report we describe two non-related patients, a 12-year-old girl and 3 6/12-year-old boy, with Costello syndrome. Costello syndrome is a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign. Characteristic facial changes, loose, hyperelastic skin and papillomata become progressively more evident with age. Patients with Costello syndrome present a pleasant, happy nature and are mildly to moderately mentally retarded.
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