Article
Severe perinatal hypophosphatasia case with a novel mutation.
Archivos argentinos de pediatria - 1 Feb 2022
Yazici Havva, Canda Ebru, Kalkan Ucar Sema, Coker Mahmut
Abstract excerpt
Hypophosphatasia (HPP) is a rare inherited disorder caused by mutations in the ALPL gene. Mineralization defect in bones and teeth, abnormal respiratory function, seizures, hypotonia, bone pain, and nephrocalcinosis can be observed. Clinical forms are usually recognized based on age at diagnosis and severity of features. We present an infant with an enlarged anterior fontanelle, soft calvarium, fractures,...
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