Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.anpedi.2016.06.008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rationale: Koolen-De Vries syndrome (KdVS, OMIM: 612452), also known as 17q21.31 microdeletion syndrome, is an autosomal dominant genetic disease. In the study, we analyze of clinical phenotype and gene variation of a child with Koolen-De Vries syndrome, review the literature to improve the understanding of the disease.
View Article and Find Full Text PDFIncidence of hip problems in developmental central hypotonia: A scoping review.
Dev Med Child Neurol
October 2024
Department of Clinical Sciences, Orthopaedics, Lund University, Lund, Sweden.
Article Synopsis
- The study aims to explore hip problems in individuals with developmental central hypotonia, focusing on various rare genetic disorders while excluding Down syndrome.
- It analyzed 89 articles, ultimately including 79 that covered 544 subjects aged from infancy to 63 years, revealing that many of these syndromes are linked to hip structural or stability issues starting from birth, which worsen over time.
- The findings suggest that children with notable hypotonia should undergo specific ultrasound screenings and regular orthopedic evaluations to monitor and address potential hip issues that might not be detected through standard neonatal assessments.
Koolen-de Vries Syndrome: a journey from diagnosis to treatments.
Ther Adv Rare Dis
July 2024
Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA.
The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this aim, the foundation has focused on: developing scientific resources through patient cell and animal models, providing seed funding to basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement. Projects have been prioritized across these areas of focus with an emphasis on expanding international research on KdVS, supporting translational research, establishing an international natural history study and conducting studies to assess patient priorities.
View Article and Find Full Text PDFPrevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Nat Med
July 2024
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Article Synopsis
- The study highlights the lack of understanding regarding comorbidities in individuals with neurodevelopmental disorders (NDDs), which are crucial for accurate diagnosis and prognosis.
- PhenomAD-NDD is a newly developed database that compiles comorbid phenotypic data from over 51,000 individuals with NDD, utilizing a standardized classification known as Human Phenotype Ontology (HPO).
- The findings reveal that congenital anomalies are significantly more common in the NDD population compared to the general population, and highlight that many important phenotypes related to genetic NDDs are not currently documented in existing clinical resources like OMIM.
Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.
BMC Anesthesiol
April 2024
Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Article Synopsis
- Koolen-de Vries syndrome (KdVS) is a rare genetic disorder characterized by symptoms like hypotonia, developmental delay, and distinctive facial features, with limited previous research on anesthesia management in affected patients.
- A case study details the anesthesia management of a 21-month-old boy with KdVS undergoing orchidopexy, highlighting challenges due to his complex condition, particularly tracheo/laryngomalacia, necessitating specific anesthetic strategies.
- It emphasizes the need for careful airway management and prolonged monitoring for KdVS patients post-anesthesia, especially for those with respiratory complications.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!