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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Published in | Medical journal. Armed Forces India |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Elsevier B.V
01.10.2023
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Subjects | |
Online Access | Get full text |
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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. |
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ISSN: | 0377-1237 |
DOI: | 10.1016/j.mjafi.2023.08.009 |