Apert syndrome.
A case of Apert syndrome in a male child of 5 months old has been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactyly of both hands and feet, supported by skull roentgenography and ultrasonography. The patient was the third child from normal parents, and the two other children were normal. Apert syndrome is a genetic dominant autosomal disease; and because there were no other sufferer from the family history, the occurrence of this syndrome has been caused by a new mutation. Symptomatic therapy such as the administration of acetazolamide for hydrocephalus and vitamin supplement to improve his general condition, and even physical physiotherapy have been carried out. Genetic counselling to the couple has been provided as well.
Suparta
N
N
Department of Child Health, Gadjah Mada University, Yogyakarta.
Hartono
Sunartini
D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree