Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.
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.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Vogels
A
A
Haegeman
J
J
Eggermont
E
E
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007593:Joint Instability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D013577:Syndrome