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Achondroplasia

Latest Publications and Research on Achondroplasia

Mol Genet Genomic Med   2020 Jan 23   

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Nagata T, Matsushita M, Mishima K, Kamiya Y, Kato K, Toyama M, Ogi T, Ishiguro N, Kitoh H

Achondroplasia (ACH), the most common form of short-limbed skeletal dysplasia, is caused by gain-of-function mutations in the fibroblast growth factor ... Read More

Source: PubMed
Spine Deform      

Sagittal Spinopelvic Parameters in Children With Achondroplasia.

Abousamra O, Shah SA, Heydemann JA, Kreitz TM, Rogers KJ, Ditro C, Mackenzie WG

Retrospective cross-sectional, longitudinal radiographic analysis. ... Read More

Source: PubMed
Asian J Neurosurg      

Congenital Spinal Canal Stenosis with Ossification of the Ligamentum Flavum in an Achondroplastic Patient: A Case Report and Literature Review.

Kachonkittisak K, Kunakornsawat S, Pluemvitayaporn T, Piyaskulkaew C, Pruttikul P, Kittithamvongs P

Achondroplasia has an effect on intracartilaginous ossification during the development of the spine resulting in a narrow spinal canal. This abnormal ... Read More

Source: PubMed
Can J Anaesth   2020 Jan 02   

Emergency front of neck access after a can't intubate can't oxygenate scenario in a patient with achondroplasia.

Humble AGR, Phu T, Ryan K

Read More

Source: PubMed
Orphanet J Rare Dis      

The evolving therapeutic landscape of genetic skeletal disorders.

Sabir AH, Cole T

Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniq ... Read More

Source: PubMed

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