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About 30 results

ALLMedicine™ Acromicric Dysplasia Center

Research & Reviews  12 results

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
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...

Acromicric dysplasia
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...

Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an ...
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...

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a compari...
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...

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