Costello syndrome.
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.
Der Kaloustian
V M
VM
Division of Medical Genetics, McGill University School of Medicine, Montreal, Quebec, Canada.
Moroz
B
B
McIntosh
N
N
Watters
A K
AK
Blaichman
S
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D010212:Papilloma; D013577:Syndrome