NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia

Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parent...

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Bibliographic Details
Published inMedical journal. Armed Forces India
Main Authors Richa, Swati, Dwivedi, Aradhana, Shaw, Subhash Chandra, Singh, Daljit
Format Journal Article
LanguageEnglish
Published Elsevier B.V 01.10.2023
Subjects
Central hypotonia
NEDRIHF
NEDRIHF-PURA syndrome
PURA syndrome
Purine-rich element-binding protein A
Central hypotonia
Purine-rich element-binding protein A
PURA syndrome
NEDRIHF
NEDRIHF-PURA syndrome
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Summary:Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parental concern and anxiety. We report one such rarely diagnosed case of NEDRIHF-PURA (purine-richelement-binding protein A) syndrome.
ISSN:0377-1237
DOI:10.1016/j.mjafi.2023.08.009