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Apert syndrome.

Authors: N, Suparta; , Hartono; , Sunartini;

Apert syndrome.

Abstract

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.

Related Organizations
Keywords

Male, Humans, Infant, Acrocephalosyndactylia, Pedigree

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold