ALLMedicine™ Acrodysostosis Center
Research & Reviews 18 results
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...
BMC Endocrine Disorders; Petraitytė G, Šiaurytė K et. al.
Apr 17th, 2021 - Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with or without hormonal resistance. Pathogenic variants in the PRKAR1A and PDE4D genes are known genetic causes of this condition. The latter gene variants are mor...
Foot & Ankle Specialist; Mansur H, Maranho DA
Nov 21st, 2020 - Level V: Case report.
Endocrine Elli FM, Mantovani G
Nov 13th, 2020 - Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first descrip...
BMC Medical Genetics; Kartalias K, Gillies AP et. al.
Oct 1st, 2020 - Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and adva...