Publications by authors named "J Harvengt"
ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and dysautonomia. We report the first patient identified with HIDEA syndrome from our ROHHAD cohort.
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- More than half of rare diseases have unclear genetic causes, and standard genome sequencing of large patient groups could help identify these causes if effective methods are used.
- The researchers created a database called 'Rareservoir' with data from over 77,000 participants to analyze genetic variations related to 269 rare disease classes.
- They found 241 known and 19 new gene-disease associations, establishing links between specific genes and conditions like primary lymphoedema and congenital hearing impairment.
Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium.
View Article and Find Full Text PDFBackground: ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown.
View Article and Find Full Text PDFBackground: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases.
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