Publications by authors named "C P Burren"
Article Synopsis
- Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that often presents with congenital great toe abnormalities (CBHV), intermittent swelling, and abnormal bone growth.
- A case report describes a three-month-old girl with CBHV whose condition raised concerns for FOP, but comprehensive genetic testing revealed no typical markers for the disorder.
- The findings emphasize the importance of CBHV as an early diagnostic sign for FOP, while also suggesting that affected infants should be carefully evaluated and monitored before confirming a diagnosis.
X-linked acrogigantism (X-LAG) is characterized by extreme tall stature from early childhood resulting from duplication of the gene, in turn resulting in GH excess. Most cases present with pituitary tumors secreting GH and prolactin. Diffuse pituitary hyperplasia is uncommon and normal prolactin is rare.
View Article and Find Full Text PDFArticle Synopsis
- Hypochondroplasia (HCH) is a rare skeletal condition leading to mild short stature, with limited growth reference charts available for affected children.
- Researchers collected anthropometric data from 188 children diagnosed with HCH across 14 European centers, generating height, weight, and head circumference growth charts using advanced statistical models.
- The resulting growth charts, which include centiles from 2nd to 98th, are crucial for clinical care, helping to identify other health issues impacting growth and serving as benchmarks for future research trials.
Objectives: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality. Diagnosis is often challenging. We describe three cases of ROHHAD with heterogeneous presentations but some consistent clinical features, including hyperprolactinaemia at diagnosis.
View Article and Find Full Text PDFBackground: Research on the effects of the COVID-19 pandemic on people with rare diseases is limited. Few studies compare healthcare throughout the progression of the ongoing pandemic.
Aims: To assess the impact of the pandemic on individuals with osteogenesis imperfecta across two consecutive years, understand what challenges were encountered, and analyse the experience of remote consultation.