Research & Literature

Management of a Parturient with Diastrophic Dysplasia.

Lagoy JS, Kofford ND, Gosselin BJ, et al.

A & A case reports 2015; (5(1)):6-8 doi:10.1213/XAA.0000000000000162.

N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.

Monti L, Paganini C, Lecci S, et al.

Human molecular genetics 2015; (24(19)):5570-80 doi:10.1093/hmg/ddv289.

Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia.

Bayhan IA, Er MS, Nishnianidze T, et al.

Journal of pediatric orthopedics 2016; (36(7)):709-14 doi:10.1097/BPO.0000000000000530.

Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up.

Jasiewicz B, Potaczek T, Duda S, Tęsiorowski M

Journal of craniovertebral junction & spine 2015; (6(4)):216-8 doi:10.4103/0974-8237.167886.

Effectiveness of the Ponseti method for treating clubfoot associated with myelomeningocele: 3-9 years follow-up.

Matar HE, Beirne P, Garg NK

Journal of pediatric orthopedics. Part B 2017; (26(2)):133-136 doi:10.1097/BPB.0000000000000352.

Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up.

Matar HE, Makki D, Garg NK

Journal of pediatric orthopedics. Part B 2018; (27(1)):56-60 doi:10.1097/BPB.0000000000000434.

Multiple SLC26A2 mutations occurring in a three-generational family.

Barreda-Bonis AC, Barraza-García J, Parrón M, et al.

European journal of medical genetics 2018; (61(1)):24-28 doi:10.1016/j.ejmg.2017.10.007.

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Kausar M, Mäkitie RE, Toiviainen-Salo S, et al.

European journal of medical genetics 2019; (62(11)):103573 doi:10.1016/j.ejmg.2018.11.007.

Molecular characterization of central cytoplasmic loop in Aspergillus nidulans AstA transporter.

Pilsyk S, Sieńko M, Perlińska-Lenart U, et al.

Acta biochimica Polonica 2018; (65(4)):545-554 doi:10.18388/abp.2018_2620.

Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.

Zheng C, Lin X, Xu X, et al.

EBioMedicine 2019; (40()):695-709 doi:10.1016/j.ebiom.2019.01.010.

A Modified Ponseti Method for the Treatment of Rigid Idiopathic Congenital Clubfoot.

Zhang G, Zhang Y, Li M

The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons 2019; (58(6)):1192-1196 doi:10.1053/j.jfas.2019.04.003.

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.

Sato T, Kojima T, Samura O, et al.

American journal of medical genetics. Part A 2020; (182(4)):735-739 doi:10.1002/ajmg.a.61469.

Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine.

Paganini C, Gramegna Tota C, Monti L, et al.

Biochemical pharmacology 2021; (185()):114452 doi:10.1016/j.bcp.2021.114452.

Syndromic clubfoot beyond arthrogryposis and myelomeningocele: orthopedic treatment with Ponseti method.

Ferrando Meseguer E, Roig Sánchez S, Pino Almero L, et al.

Revista espanola de cirugia ortopedica y traumatologia (English ed.) 2021; (65(3)):180-185 doi:10.1016/j.recot.2020.09.005.

Ponseti Idiopathic and Nonidiopathic Clubfoot Correction With Secondary Surgeries.

Ishizuka T, Hung YY, Weintraub MR, et al.

The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons 2021; (60(4)):742-746 doi:10.1053/j.jfas.2020.09.020.

SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Härkönen H, Loid P, Mäkitie O

Genes 2021; (12(5)) doi:10.3390/genes12050714.

Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report.

Tripathi AK, Choudhary S, Singh V, Verma PK

Journal of orthopaedic case reports 2021; (11(2)):81-85 doi:10.13107/jocr.2021.v11.i02.2036.

Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three- dimensional ultrasonographic findings

de Souza Lima T, Ferreira BG, Loureiro Souza CW, et al.

Turkish journal of obstetrics and gynecology 2021; (18(3)):258-263 doi:10.4274/tjod.galenos.2021.35033.

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.

Rajala K, Kasanen E, Toiviainen-Salo S, et al.

Prenatal diagnosis 2022; (42(12)):1525-1537 doi:10.1002/pd.6186.

Dysplasias in the Child's Spine.

Campbell JW

Neurosurgery clinics of North America 2022; (33(1S)):e1-e10 doi:10.1016/j.nec.2022.02.001.

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.

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Silveira C, da Costa Silveira K, Lacarrubba-Flores MD, et al.

Molecular syndromology 2023; (13(6)):485-495 doi:10.1159/000525020.

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.

Bondarenko M, Haiboniuk I, Solovei I, et al.

Balkan journal of medical genetics : BJMG 2023; (25(2)):83-90 doi:10.2478/bjmg-2022-0018.

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

Paganini C, Carroll RS, Gramegna Tota C, et al.

Bone 2023; (175()):116838 doi:10.1016/j.bone.2023.116838.

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Kimball TN, Rivero-García P, Pérez González B, Reza-Albarrán AA

Clinical case reports 2023; (11(10)):e8028 doi:10.1002/ccr3.8028.