Infantile systemic hyalinosis: Variable grades of severity.

ABSTRACT:

Background

Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency.

Materials and methods

Two children manifested the severe type of ISH underwent genotypic confirmation. In order to identify which other family members have inherited the disease. We included siblings and cousins in this study. The baseline tool to study other family subjects was based on the phenotypic characterisations of each child.

Results

. Two children with the severe type of ISH showed craniosynostosis (brachycephaly and scaphocephaly) associated with multiple contractures, p

SUBMITTER: Al Kaissi A 

PROVIDER: S-EPMC8423165 | biostudies-literature | 2021 Oct-Dec

REPOSITORIES: biostudies-literature