ArticleTranslational pediatrics2021
Neonatal PURA syndrome: a case report and literature review.
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.International journal of molecular sciences · 2023Pooled it
- Review
- Case Report: Neonatal PURA syndrome caused by a novel c.463C>G (p.Tyr155Ter) mutation.Frontiers in pediatrics · 2026Article
- A Colombian Boy with a Novel de novoMolecular syndromology · 2025Article
- Incidence of hip problems in developmental central hypotonia: A scoping review.Developmental medicine and child neurology · 2025Article
- PURA syndrome-a genetic cause of a neurodevelopmental disorder-case report.Frontiers in pediatrics · 2025Article
- NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia.Medical journal, Armed Forces India · 2024Article
- First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser)Biomedica : revista del Instituto Nacional de Salud · 2024Article
- Review
- Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.Frontiers in pediatrics · 2024Article
- Heterozygous c.175C>T variant inClinical case reports · 2023Article
- A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.European journal of human genetics : EJHG · 2023Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The study's purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively. The keywords "PURA", "PURα", "PURA syndrome", and "5q31" were used to search the Chinese periodical full-text database and Wanfang database. The keywords "PURA", "PURα", "Pur-alpha", "PURA syndrome", and "5q31" were used to search the biomedical literature database (PubMed). The Web of Science database and Proquest database were used to find works of literature from the establishment of the database to November 10, 2019. By analyzing the 72 cases of PURA syndrome reported in ten Chinese and international studies, it was found that 57% (21/37) of the patients had a gestational age greater than 41 weeks. Neonatal patients exhibited hypotonia (82%, 59/72), feeding difficulties (97%, 64/66), apnea or primary hypoventilation (57%, 41/72), intrauterine excessive hiccupping (55%, 6/11), and drowsiness (51%, 24/47). After the neonatal period, the pediatric patients demonstrated moderate to severe mental retardation (100%), epilepsy (54%, 29/54), progressive hip dysplasia (17%, 7/42), scoliosis (48%, 11/23), dysphagia and salivation (69%, 25/36), and constipation (60%, 21/35). The clinical manifestations of the present case were consistent with those in the literature reports. It was the first confirmed case at Shenzhen Hospital in the neonatal period and had a
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