ALLMedicine™ Acromicric Dysplasia Center
Research & Reviews 12 results
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 10.1136/jmg.2010.087544 10.1002/ajmg.1320240307 10.1136/jmg.38.11.745 10.1016/j.ajhg.2011.05.012 10.1136/jmedgenet-2015-103647 10.1038/ng.199 10.1096/fj.201800753RR 10.1093/bioinformatics/btv362 10.1038/nprot.2015.053 10.1016/j.str.2004.02.023 10.1093/nar/gku316 10.1002/ajmg.a.36139 10.1002/ajmg.a.61268 10.1002/ajmg.a.37739 10.1017/S1047951113001753 10.1017/S1047951116002006 10.1002/ajmg.a.30450 10.1002/ajmg.a.40377 10.1101/cshperspect.a022210 10.1371/journal.pone.0100310 10.3390/ijms19082460 10.1038/ejhg.2013.288 10.1016/j.amjoto.2015.04.005 10.1038/nrneph.2016.48 10.1016/j.jaci.2005.09.017 10.1002/ajmg.a.36147 10.1371/journal.pone.0048634 10.1073/pnas.052706099 10.1038/ejhg.2008.207 10.1097/MD.0000000000010767
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...
https://doi.org/10.1515/jpem-2016-0258
Journal of Pediatric Endocrinology & Metabolism : JPEM; Hasegawa K, Numakura C et. al.
Dec 10th, 2016 - Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinic...