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About 45 results

ALLMedicine™ Acrodysostosis Center

Research & Reviews  18 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...

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051037
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...

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different n...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8159830
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...

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need f...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526353
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...

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