ALLMedicine™ Acromicric Dysplasia Center
Research & Reviews 13 results
https://doi.org/10.1515/jpem-2022-0287
Journal of Pediatric Endocrinology & Metabolism : JPEM; Quitter F, Flury M et. al.
Aug 10th, 2022 - Short stature is one of the most common reasons for consulting a paediatric endocrinologist. Targeted diagnosis of familial short stature can be challenging due to a broad spectrum of differential diagnoses. Here we report a novel mutation in the ...
https://doi.org/10.1002/ajmg.a.62236
American Journal of Medical Genetics. Part A; Nguyen DB, Khirani S et. al.
Apr 29th, 2021 - Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with s...
https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia
Dec 3rd, 2020 - Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement an...
https://doi.org/10.1038/s41436-020-00994-x
Genetics in Medicine : Official Journal of the American C... Marzin P, Thierry B et. al.
Oct 22nd, 2020 - Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1 and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336748
Molecular Genetics & Genomic Medicine; Wang T, Yang Y et. al.
May 15th, 2020 - Acromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time o...
