Research & Literature

Multiple epiphyseal dysplasia.

Anthony S, Munk R, Skakun W, Masini M

The Journal of the American Academy of Orthopaedic Surgeons 2015; (23(3)):164-72 doi:10.5435/JAAOS-D-13-00173.

Skeletal dysplasias.

Krakow D

Clinics in perinatology 2015; (42(2)):301-19, viii.

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.

Kimura M, Ichimura S, Sasaki K, et al.

Biochemical and biophysical research communications 2015; (468(1-2)):86-91.

Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia.

Koch JE, Mann G, Hetsroni I

Arthroscopy techniques 2016; (5(2)):e229-34 doi:10.1016/j.eats.2015.11.006.

The fate of hips that are conservatively treated in multiple epiphyseal dysplasia.

Kim SJ, Ramanathan AK, Jeon YS, Song HR

Journal of pediatric orthopedics. Part B 2017; (26(6)):526-531 doi:10.1097/BPB.0000000000000368.

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Liu HY, Xiao JF, Huang J, et al.

Chinese medical journal 2017; (130(1)):104-107 doi:10.4103/0366-6999.196568.

Single-Stage Corrective Osteotomies for Multiple Angular Deformities Around the Knee Joint with Patellar Instability in a Patient with Multiple Epiphyseal Dysplasia: A Case Report.

Song EK, Seon JK, Agrawal PR

JBJS case connector 2015; (5(3)):e82 doi:10.2106/JBJS.CC.N.00177.

Hybrid total hip arthroplasty for multiple epiphyseal dysplasia.

Vanlommel J, Vanlommel L, Molenaers B, Simon JP

Orthopaedics & traumatology, surgery & research : OTSR 2018; (104(3)):301-305 doi:10.1016/j.otsr.2017.11.014.

Total Hip Arthroplasty in a Patient with Oto-Spondylo-Megaepiphyseal Dysplasia Planned by Three-Dimensional Motion Analyses and Full-Scale Three-Dimensional Plaster Model of Bones.

Tanaka T, Ito H, Oshima H, et al.

Case reports in orthopedics 2018; (2018()):8384079 doi:10.1155/2018/8384079.

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.

Zhou T, Wang Y, Zhou H, et al.

BMC medical genetics 2018; (19(1)):70 doi:10.1186/s12881-018-0596-7.

Chondrogenic properties of collagen type XI, a component of cartilage extracellular matrix.

Li A, Wei Y, Hung C, Vunjak-Novakovic G

Biomaterials 2018; (173()):47-57 doi:10.1016/j.biomaterials.2018.05.004.

Double-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED).

Milants A, De Maeseneer M, De Mey J

Journal of the Belgian Society of Radiology 2017; (101(1)):8 doi:10.5334/jbr-btr.1219.

Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia.

Sayilir S, Ekiz T

Archives of rheumatology 2017; (32(3)):260-263 doi:10.5606/ArchRheumatol.2018.6415.

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.

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.

Dasa V, Eastwood JRB, Podgorski M, et al.

American journal of medical genetics. Part A 2019; (179(4)):534-541 doi:10.1002/ajmg.a.61049.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Byrne AB, Mizumoto S, Arts P, et al.

Journal of medical genetics 2020; (57(7)):454-460 doi:10.1136/jmedgenet-2019-106700.

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Das L, Dhiman V, Van Hul W, et al.

Bone reports 2020; (12()):100245 doi:10.1016/j.bonr.2020.100245.

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.

Technical Considerations of Complex Primary Total Hip Arthroplasty in a Rare Case of Combined Achondroplasia and Hereditary Multiple Exostosis Syndromes.

Kenanidis E, Paparoidamis G, Garantziotis N, et al.

Journal of orthopaedic case reports 2020; (9(6)):32-35 doi:10.13107/jocr.2019.v09.i06.1576.

Sitting Height to Standing Height Ratio Reference Charts for Children in the United States.

Hawkes CP, Mostoufi-Moab S, McCormack SE, et al.

The Journal of pediatrics 2020; (226()):221-227.e15 doi:10.1016/j.jpeds.2020.06.051.

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

Andrzejewski A, Péjin Z, Finidori G, et al.

Journal of pediatric orthopedics 2021; (41(2)):e135-e140 doi:10.1097/BPO.0000000000001708.

Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study.

Hyvönen H, Anttila H, Tallqvist S, et al.

BMC musculoskeletal disorders 2020; (21(1)):808 doi:10.1186/s12891-020-03835-9.

COMP and TSP-4: Functional Roles in Articular Cartilage and Relevance in Osteoarthritis.

Maly K, Andres Sastre E, Farrell E, et al.

International journal of molecular sciences 2021; (22(5)) doi:10.3390/ijms22052242.

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.

Conventional Radiography and Ultrasound Imaging of Rheumatic Diseases Affecting the Pediatric Population.

Pracoń G, Aparisi Gómez MP, Simoni P, et al.

Seminars in musculoskeletal radiology 2021; (25(1)):68-81 doi:10.1055/s-0041-1726014.

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Kim SJ, Lee SM, Choi JM, et al.

Frontiers in genetics 2021; (12()):670608 doi:10.3389/fgene.2021.670608.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A, Kangas-Kontio T, Irving M, et al.

Orphanet journal of rare diseases 2021; (16(1)):412 doi:10.1186/s13023-021-02025-7.

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.

Rochoux Q, Sopkova-de Oliveira Santos J, Marcelli C, et al.

Biomolecules 2021; (11(10)) doi:10.3390/biom11101460.

A primer on skeletal dysplasias.

Handa A, Nishimura G, Zhan MX, et al.

Japanese journal of radiology 2022; (40(3)):245-261 doi:10.1007/s11604-021-01206-5.

Orthopedic concerns of a child with short stature.

Liau ZQG, Wang Y, Lin HY, et al.

Current opinion in pediatrics 2022; (34(1)):82-91 doi:10.1097/MOP.0000000000001081.

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.

Chiang J, Chia TH, Yuen J, et al.

JCO precision oncology 2021; (5()):577-584 doi:10.1200/PO.20.00399.

Double-layered patella management in total knee arthroplasty for secondary osteoarthritis: A case report.

Eichler D, Vendittoli PA

Journal of ISAKOS : joint disorders & orthopaedic sports medicine 2022; (7(2)):99-105 doi:10.1016/j.jisako.2022.01.004.

Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.

Luo ZJ, Li H, Yang L, et al.

Bone 2022; (163()):116508 doi:10.1016/j.bone.2022.116508.

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Markova T, Kenis V, Melchenko E, et al.

Genes 2022; (13(9)) doi:10.3390/genes13091512.

Advances in Musculoskeletal Imaging in Juvenile Idiopathic Arthritis.

Sudoł-Szopińska I, Herregods N, Doria AS, et al.

Biomedicines 2022; (10(10)) doi:10.3390/biomedicines10102417.

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.

Handa A, Grigelioniene G, Nishimura G

Radiographics : a review publication of the Radiological Society of North America, Inc 2023; (43(5)):e220067 doi:10.1148/rg.220067.

Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children.

Kizilkaya V, Engin S, Tunc A, Tonbul A

International journal of surgery case reports 2023; (106()):108179 doi:10.1016/j.ijscr.2023.108179.

Life span care for patients with skeletal dysplasia: A roadmap.

Nijhuis WH, Verhoef M, Sakkers RJB

European journal of medical genetics 2023; (66(11)):104851 doi:10.1016/j.ejmg.2023.104851.

The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia.

Chang YY, Lee CC, Lin SC, et al.

Orphanet journal of rare diseases 2023; (18(1)):340 doi:10.1186/s13023-023-02920-1.

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.

Farley KO, Forbes CA, Shaw NC, et al.

HGG advances 2024; (5(1)):100257 doi:10.1016/j.xhgg.2023.100257.

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.

S DD, Chandola S, Jain A, et al.

The Indian journal of radiology & imaging 2024; (34(2)):291-308 doi:10.1055/s-0043-1777320.

Molecular genetic screening after non-ischaemic sudden cardiac arrest and no overt cardiomyopathy in real life: A major tool for the aetiological diagnostic work-up.

Weizman O, Gandjbakhch E, Magnin-Poull I, et al.

Archives of cardiovascular diseases 2024; (117(6-7)):382-391 doi:10.1016/j.acvd.2024.02.005.

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A, Coll M, Iglesias A, et al.

PloS one 2024; (19(5)):e0297914 doi:10.1371/journal.pone.0297914.

Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies.

Kitamura T, Yamazaki S, Kijima T, et al.

Cureus 2024; (16(4)):e58906 doi:10.7759/cureus.58906.

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

Li S, Sheng Y, Wang X, et al.

Orphanet journal of rare diseases 2024; (19(1)):245 doi:10.1186/s13023-024-03228-4.

Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.

Mazzotti A, Artioli E, Brizola E, et al.

Genes 2024; (15(11)) doi:10.3390/genes15111490.

Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz syndrome: a single TGFBR1 variant, two phenotypes in one patient.

Moeris E, Battisti G, Lenne A, Cambier N

BMJ case reports 2025; (18(2)) doi:10.1136/bcr-2024-261563.

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.

Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature.

Ricks SJ, Johnson J, Ayers KB, Pena LDM

Journal of genetic counseling 2025; (34(3)):e70033 doi:10.1002/jgc4.70033.

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Daşar T, İmren G, Yıldız AE, et al.

European journal of pediatrics 2025; (184(6)):350 doi:10.1007/s00431-025-06176-8.

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

Dennis EP, Briggs MD

International journal of molecular sciences 2025; (26(20)) doi:10.3390/ijms262010057.

Exome sequencing of pashtun familial epilepsy in Pakistan reveals novel variants in LAMA5, KCNQ2 and GNAO1.

Ali Q, Azam S, Javed J, et al.

Molecular biology reports 2026; (53(1)).

Unmasking JIA mimics: skeletal dysplasias in pediatric rheumatology.

Özomay Baykal G, Yarar MH, Ünal G, et al.

European journal of pediatrics 2026; (185(8)).