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An Infant With Primrose Syndrome: A Case Report
Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625483/ https://www.ncbi.nlm.nih.gov/pubmed/37927765 http://dx.doi.org/10.7759/cureus.46546 |
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author | Long, Calista DeRose, Barry Lal, Anthony B Imboden, Elizabeth |
author_facet | Long, Calista DeRose, Barry Lal, Anthony B Imboden, Elizabeth |
author_sort | Long, Calista |
collection | PubMed |
description | Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition. Awareness of presentation and prompt diagnostic workup are crucial for early identification and proper management. In this case report, we discuss a case of Primrose syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient exhibited classic phenotypic features, including a high hairline, high-arched palate, and brachycephaly at birth, as well as an absent corpus callosum observed on postnatal MRI and genotypic findings of a pathogenic variant in ZBTB20. |
format | Online Article Text |
id | pubmed-10625483 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-106254832023-11-05 An Infant With Primrose Syndrome: A Case Report Long, Calista DeRose, Barry Lal, Anthony B Imboden, Elizabeth Cureus Pediatrics Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition. Awareness of presentation and prompt diagnostic workup are crucial for early identification and proper management. In this case report, we discuss a case of Primrose syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient exhibited classic phenotypic features, including a high hairline, high-arched palate, and brachycephaly at birth, as well as an absent corpus callosum observed on postnatal MRI and genotypic findings of a pathogenic variant in ZBTB20. Cureus 2023-10-05 /pmc/articles/PMC10625483/ /pubmed/37927765 http://dx.doi.org/10.7759/cureus.46546 Text en Copyright © 2023, Long et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pediatrics Long, Calista DeRose, Barry Lal, Anthony B Imboden, Elizabeth An Infant With Primrose Syndrome: A Case Report |
title | An Infant With Primrose Syndrome: A Case Report |
title_full | An Infant With Primrose Syndrome: A Case Report |
title_fullStr | An Infant With Primrose Syndrome: A Case Report |
title_full_unstemmed | An Infant With Primrose Syndrome: A Case Report |
title_short | An Infant With Primrose Syndrome: A Case Report |
title_sort | infant with primrose syndrome: a case report |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625483/ https://www.ncbi.nlm.nih.gov/pubmed/37927765 http://dx.doi.org/10.7759/cureus.46546 |
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