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Page 1
Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P. Ježová M, et al. Cesk Patol. 2023 Summer;59(2):68-79. Cesk Patol. 2023. PMID: 37468326 Review. English.
Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. ...
Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and …
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Offiah AC, Vockley J, Munns CF, Murotsuki J. Offiah AC, et al. Pediatr Radiol. 2019 Jan;49(1):3-22. doi: 10.1007/s00247-018-4239-0. Epub 2018 Oct 3. Pediatr Radiol. 2019. PMID: 30284005 Free PMC article. Review.
., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not uniqu …
., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal H …
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.
Lilianty J, Bateman JF, Lamandé SR. Lilianty J, et al. Stem Cell Res. 2021 Oct;56:102515. doi: 10.1016/j.scr.2021.102515. Epub 2021 Aug 25. Stem Cell Res. 2021. PMID: 34543885 Free article.
The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. ...Together with its parental isogenic control, this cell line will be useful for Hypochondrogenesis disease modelling and drug testing....
The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. ...Together w …
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Barat-Houari M, et al. Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Hum Mutat. 2016. PMID: 26443184 Review.
These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The mutations resulting in a premature stop codon are found in less severe phenotypes such as Stickler syndrome. ...
These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The mutations res …
Radiologic Features of Type II and Type XI Collagenopathies.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2021 Jan-Feb;41(1):192-209. doi: 10.1148/rg.2021200075. Epub 2020 Nov 13. Radiographics. 2021. PMID: 33186059
These collagenopathies comprise achondrogenesis type 2, hypochondrogenesis, SEDC, and other uncommon subtypes. The Kniest-Stickler group is characterized by disordered tubular bone growth that leads to "dumbbell" deformities. ...
These collagenopathies comprise achondrogenesis type 2, hypochondrogenesis, SEDC, and other uncommon subtypes. The Kniest-Stickler gr …
Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography.
Bisht RU, Belthur MV, Singleton IM, Solomon JE, Goncalves LF. Bisht RU, et al. Clin Imaging. 2021 Jan;69:363-368. doi: 10.1016/j.clinimag.2020.10.013. Epub 2020 Oct 12. Clin Imaging. 2021. PMID: 33070083
We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly after birth. Hypochondrogenesis can present similarly to other skeletal dysplasia diseases, notably achondrogenesis type II. ...
We present a case of hypochondrogenesis, a rare autosomal dominant skeletal dysplasia that often results in infant death shortly afte …
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
Almatrafi A, Alfadhli F, Khan YN, Afzal S, Hashmi JA, Ullah A, Albalawi AM, Basit S. Almatrafi A, et al. Genet Test Mol Biomarkers. 2019 May;23(5):310-315. doi: 10.1089/gtmb.2018.0301. Epub 2019 Mar 30. Genet Test Mol Biomarkers. 2019. PMID: 30932712
Materials and Methods: A patient who was diagnosed initially with osteochondrodysplasia underwent a detailed clinical and radiological examination to obtain a conclusive diagnosis. The patient did not show any clinical features of hypochondrogenesis. Whole exome sequencing …
Materials and Methods: A patient who was diagnosed initially with osteochondrodysplasia underwent a detailed clinical and radiological exami …
Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Al-Sannaa NA, Hoornaert KP, Van Laer L, Al-Abdulwahed HY, Mortier G. Al-Sannaa NA, et al. Eur J Med Genet. 2020 Dec;63(12):104059. doi: 10.1016/j.ejmg.2020.104059. Epub 2020 Sep 5. Eur J Med Genet. 2020. PMID: 32896647
Type 2 collagenopathies encompass a large group of chondrodysplasias ranging from the perinatally lethal achondrogenesis type 2 and hypochondrogenesis at the severe end of the spectrum to early-onset osteoarthritis with normal stature at the milder end of the spectrum. ...
Type 2 collagenopathies encompass a large group of chondrodysplasias ranging from the perinatally lethal achondrogenesis type 2 and hypoc …