3 documents found, page 1 of 1
European Achondroplasia Forum guiding principles for the detection and manageme...
Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Geneviève; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; Fredwall, SveinForamen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal...
The first European consensus on principles of management for achondroplasia
Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Sousa, Sérgio Bernardo de; Boero, Silvio; Fredwall, Svein O.; Guillen-Navarro, EncarnaAchondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to deli...
The genomic landscape of balanced cytogenetic abnormalities associated with hum...
Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, VamseeDespite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting t...