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 ...
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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. ...
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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 ...
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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
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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 ...
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Source: PubMed
