Research & Literature

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Terhal PA, Nievelstein RJ, Verver EJ, et al.

American journal of medical genetics. Part A 2015; (167A(3)):461-75 doi:10.1002/ajmg.a.36922.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, et al.

PloS one 2015; (10(6)):e0127529 doi:10.1371/journal.pone.0127529.

Spondyloepiphyseal Dysplasia Congenita in a painting of Vicente López y Portaña (1825).

Oranges CM, Tremp M, Kaempfen A, Schaefer DJ

Journal of endocrinological investigation 2016; (39(6)):717 doi:10.1007/s40618-015-0417-1.

Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita.

Serhan Er M, Abousamra O, Rogers K, et al.

Journal of pediatric orthopedics 2017; (37(7)):466-472 doi:10.1097/BPO.0000000000000702.

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

Sangsin A, Srichomthong C, Pongpanich M, et al.

Genetics and molecular research : GMR 2016; (15(1)):15017624 doi:10.4238/gmr.15017624.

Best practices in peri-operative management of patients with skeletal dysplasias.

White KK, Bompadre V, Goldberg MJ, et al.

American journal of medical genetics. Part A 2017; (173(10)):2584-2595 doi:10.1002/ajmg.a.38357.

A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

Xiong Q, Liu Y, Xue Y, et al.

Human genome variation 2018; (5()):17059 doi:10.1038/hgv.2017.59.

Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia.

Zhu X, Evans KN, El-Gharbawy A, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018; (55(5)):773-777 doi:10.1177/1055665618758102.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Savarirayan R, Rossiter JP, Hoover-Fong JE, et al.

American journal of obstetrics and gynecology 2018; (219(6)):545-562 doi:10.1016/j.ajog.2018.07.017.

Feeding difficulty in an infant: an unusual cause.

Qadri SK, Logarajah V, Nah SA, Jamuar SS

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225289.

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.

Al Kaissi A, Ryabykh S, Pavlova OM, et al.

Medicine 2019; (98(1)):e13780 doi:10.1097/MD.0000000000013780.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Jennings SE, Ditro CP, Bober MB, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2019; (28(6)):1457-1464 doi:10.1007/s11136-019-02102-2.

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Savarirayan R, Bompadre V, Bober MB, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(9)):2070-2080 doi:10.1038/s41436-019-0446-9.

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

Pode-Shakked B, Vivante A, Barel O, et al.

BMC medical genetics 2019; (20(1)):53 doi:10.1186/s12881-019-0787-x.

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, et al.

Genetic testing and molecular biomarkers 2019; (23(5)):310-315 doi:10.1089/gtmb.2018.0301.

Stickler syndrome: exploring prophylaxis for retinal detachment.

Coussa RG, Sears J, Traboulsi EI

Current opinion in ophthalmology 2019; (30(5)):306-313 doi:10.1097/ICU.0000000000000599.

Cervical Myelopathy without Symptoms in the Upper Extremities: Incidence and Presenting Characteristics.

Houten JK, Pasternack J, Norton RP

World neurosurgery 2019; (132()):e162-e168 doi:10.1016/j.wneu.2019.08.231.

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.

Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

The application of clinical genetics 2019; (12()):235-238 doi:10.2147/TACG.S197205.

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.

Rolvien T, Yorgan TA, Kornak U, et al.

Osteoarthritis and cartilage 2020; (28(3)):334-343 doi:10.1016/j.joca.2019.12.011.

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.

Zheng WB, Li LJ, Zhao DC, et al.

Molecular genetics & genomic medicine 2020; (8(3)):e1139 doi:10.1002/mgg3.1139.

MRI findings of the cervical spine in patients with mucopolysaccharidosis type VI: relationship with neurological physical examination.

Lins CF, de Carvalho TL, de Moraes Carneiro ER, et al.

Clinical radiology 2020; (75(6)):441-447 doi:10.1016/j.crad.2020.01.007.

Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic).

Drtikolová Kaupová S, Velemínský P, Cvrček J, et al.

International journal of paleopathology 2020; (30()):35-46 doi:10.1016/j.ijpp.2020.04.004.

Best practice guidelines for management of spinal disorders in skeletal dysplasia.

White KK, Bober MB, Cho TJ, et al.

Orphanet journal of rare diseases 2020; (15(1)):161 doi:10.1186/s13023-020-01415-7.

Radiologic Features of Type II and Type XI Collagenopathies.

Handa A, Grigelioniene G, Nishimura G

Radiographics : a review publication of the Radiological Society of North America, Inc 2021; (41(1)):192-209 doi:10.1148/rg.2021200075.

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

Savarirayan R, Tunkel DE, Sterni LM, et al.

Orphanet journal of rare diseases 2021; (16(1)):31 doi:10.1186/s13023-021-01678-8.

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.

Zhou T, Yang X, Chen Z, et al.

Journal of clinical laboratory analysis 2021; (35(4)):e23728 doi:10.1002/jcla.23728.

Total Knee Arthroplasty in Spondyloepiphyseal Dysplasia with Irreducible Congenital Dislocation of the Patella: Case Report and Literature Review.

Sponer P, Korbel M, Kucera T

Therapeutics and clinical risk management 2021; (17()):275-283 doi:10.2147/TCRM.S294876.

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.

Wu K, Li Z, Zhu Y, et al.

BMC medical genomics 2021; (14(1)):170 doi:10.1186/s12920-021-01020-y.

Epidemiological study of cervical cord compression and its clinical symptoms in community-dwelling residents.

Hirai T, Otani K, Sekiguchi M, et al.

PloS one 2021; (16(8)):e0256732 doi:10.1371/journal.pone.0256732.

[Primary Diseases of 393 Cases of Pediatric Retinal Detachment and the Distribution of Clinical Characteristics].

Wang PP, Liu LQ

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2021; (52(6)):1016-1021 doi:10.12182/20211160305.

Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia.

Matsushita M, Mishima K, Kamiya Y, et al.

Progress in rehabilitation medicine 2021; (6()):20210048 doi:10.2490/prm.20210048.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Akahira-Azuma M, Enomoto Y, Nakamura N, et al.

Human genome variation 2022; (9(1)):16 doi:10.1038/s41439-022-00193-x.

Prevention of Blindness in Stickler Syndrome.

Alexander P, Snead MP

Genes 2022; (13(7)) doi:10.3390/genes13071150.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

Cormier-Daire V, AlSayed M, Alves I, et al.

Orphanet journal of rare diseases 2022; (17(1)):293 doi:10.1186/s13023-022-02442-2.

Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases.

Falls CJ, Page PS, Greeneway GP, Stadler JA

Cureus 2022; (14(7)):e27020 doi:10.7759/cureus.27020.

Time to Treatment of Pediatric Retinal Detachments: A US Claims-based Analysis.

Archambault C, Azad AD, Al-Moujahed A, et al.

Ophthalmology. Retina 2023; (7(3)):221-226 doi:10.1016/j.oret.2022.08.017.

The value of dynamic MRI in cervical spondylotic myelopathy: About 24 cases.

Makhchoune M, Triffaux M, Bouras T, et al.

Annals of medicine and surgery (2012) 2022; (83()):104717 doi:10.1016/j.amsu.2022.104717.

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, et al.

Journal of sleep research 2023; (32(5)):e13914 doi:10.1111/jsr.13914.

Utility of Flexion and Extension MRI for Evaluating Isolated Cervical Spinal Cord Lesions: A Case Series.

Awada Z, Saba S, Harel A

Cureus 2023; (15(10)):e46932 doi:10.7759/cureus.46932.

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

Jiao Y, Zhao JD, Huang XA, et al.

World journal of orthopedics 2023; (14(11)):827-835 doi:10.5312/wjo.v14.i11.827.

General Anesthetic Management of a Patient With Spondyloepiphyseal Dysplasia Congenita Undergoing Palatoplasty Revision.

Hattori H, Sato Boku A, Kanazawa M, et al.

Anesthesia progress 2024; (71(1)):19-23 doi:10.2344/23-0005.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Fagereng E, Htwe S, McDonald S, et al.

Orphanet journal of rare diseases 2025; (20(1)):116 doi:10.1186/s13023-025-03610-w.

Accuracy and Reliability of Physical Signs as a Diagnostic Tool for Cervical Cord Compression: A Cross-Sectional Study.

Kato Y, Iwata E, Yano Y, et al.

Spine surgery and related research 2025; (9(2)):157-163 doi:10.22603/ssrr.2024-0187.

Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.

Zhou L, Boboev F, Chen H, et al.

Frontiers in genetics 2025; (16()):1485874 doi:10.3389/fgene.2025.1485874.

COMBINED, NOVEL MANAGEMENT OF BILATERAL VARUS HIP DEFORMITY USING "EIGHT-PLATE" IN CHILDREN WITH SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.

Vlaić J, Ribičić T, Bojić D, Antičević D

Acta clinica Croatica 2023; (62(Suppl3)):18-24 doi:10.20471/acc.2023.62.s3.2.

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Tsirikos AI, Jain A, Ahuja K

World journal of methodology 2025; (15(4)):102401 doi:10.5662/wjm.v15.i4.102401.

Utility of Prenatal Screening and Diagnostic Testing for Skeletal Dysplasias.

Murphey N, Stevens B, Micke K, et al.

Fetal diagnosis and therapy 2025; 1-9 doi:10.1159/000548470.

Occipito-Cervical Fusion Using Screw Rod Plate System in Craniocervical Pathologies: A Prospective Cohort Analysis of Long-Term Functional and Radiological Outcome With Minimum Two Years of Follow-Up.

Dave BR, Vashishtha A, Krishnan A, et al.

Cureus 2025; (17(12)):e100489 doi:10.7759/cureus.100489.