Journal article - Includes Student Work
An Infant With Primrose Syndrome: A Case Report
Curēus (Palo Alto, CA), v 15(10), 46546
05 Oct 2023
PMID: 37927765
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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.
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Details
- Title
- An Infant With Primrose Syndrome: A Case Report
- Creators
- Calista Long - Penn State Milton S. Hershey Medical CenterBarry DeRose - Drexel UniversityAnthony B Lal - WellSpan Good Samaritan Hospital (United States, Lebanon)Elizabeth Imboden - WellSpan York Hospital
- Publication Details
- Curēus (Palo Alto, CA), v 15(10), 46546
- Publisher
- Cureus
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:001089041800025
- Other Identifier
- 991021861309004721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Medicine, General & Internal