625 results match your criteria Spondyloepiphyseal Dysplasia


A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.

J Hum Genet 2021 May 24. Epub 2021 May 24.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Silver-Russell syndrome (SRS) is a congenital disorder characterized by prenatal and postnatal growth failure and craniofacial features. Hypomethylation of the H19/IGF2:IG-differential methylated region (H19LOM) is observed in 50% of SRS patients, and 15% of SRS patients with H19LOM had multilocus imprinting disturbance (MLID). Schimke immuno-osseous dysplasia (SIOD), characterized by spondyloepiphyseal dysplasia and nephropathy, is an autosomal recessive disorder caused by mutations in SMARCAL1 on chromosome 2. Read More

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Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation.

Endokrynol Pol 2021 May 19. Epub 2021 May 19.

We report a case of SEDT-XL patient who grew 18.4cm after 31 months of GH treatment, reaching the 10th percentile of the height of children of the same sex and age. Read More

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Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Am J Med Genet A 2021 Jul 28;185(7):2108-2118. Epub 2021 Apr 28.

AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Read More

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

Ther Clin Risk Manag 2021 30;17:275-283. Epub 2021 Mar 30.

Department of Orthopedic Surgery, Charles University, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic.

Background: Spondyloepiphyseal dysplasia is the clinical term applied to a group of rare genetic disorders with primary involvement of the vertebrae and epiphyses, predisposing the afflicted individuals toward the premature development of osteoarthritis. There are few reports concerning joint replacement therapy in these patients, particularly describing the role of total hip arthroplasty. In this report, we describe the anatomical and technical aspects of spondyloepiphyseal dysplasia that must be considered during surgical planning and performance of total knee arthroplasty. Read More

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New gene discoveries in skeletal diseases with short stature.

Endocr Connect 2021 May 10;10(5):R160-R174. Epub 2021 May 10.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

In the last decade, the widespread use of massively parallel sequencing has considerably boosted the number of novel gene discoveries in monogenic skeletal diseases with short stature. Defects in genes playing a role in the maintenance and function of the growth plate, the site of longitudinal bone growth, are a well-known cause of skeletal diseases with short stature. However, several genes involved in extracellular matrix composition or maintenance as well as genes partaking in various biological processes have also been characterized. Read More

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Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.

Eur J Paediatr Neurol 2021 May 16;32:46-55. Epub 2021 Mar 16.

Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

TRPV4-related disorders constitute a broad spectrum of clinical phenotypes including several genetic skeletal and neuromuscular disorders, in which clinical variability and somewhat overlapping features are present. These disorders have previously been considered to be clinically distinct phenotypes before their molecular basis was discovered. However, with the identification of TRPV4 variants in the etiology, they are referred as TRPV4-related disorders (TRPV4-pathies), and are now mainly grouped into skeletal dysplasias and neuromuscular disorders. Read More

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A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.

Medicine (Baltimore) 2021 Mar;100(11):e25169

Department of Endocrinology.

Rationale: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but missense variants are rare.

Patient Concerns: A 13-year, 8-month-old Chinese Han boy presenting with short stature for the past 7 years. Read More

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Posterior Circulation Stroke due to Atlantoaxial Instability in CHST3-Related Skeletal Dysplasia: A Case Report.

JBJS Case Connect 2021 02 24;11(1). Epub 2021 Feb 24.

Department of Radiology, Sir H.N. Reliance Foundation Hospital, Mumbai, Maharashtra, India.

Case: An eight-year-old boy presented with acute encephalopathy due to posterior circulation ischemic stroke. He was found to have vertebral artery stenosis secondary to atlantoaxial instability (AAI) due to an os odontoideum. Occipitocervical fusion was performed 4 weeks after stroke. Read More

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February 2021

Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?

Global Spine J 2021 Feb 18:2192568221994786. Epub 2021 Feb 18.

Hospital for Special Surgery, New York, NY, USA.

Study Design: Retrospective case series.

Objective: To report contemporary rates of complications and subsequent surgery after spinal surgery in patients with skeletal dysplasia.

Methods: A case series of 25 consecutive patients who underwent spinal surgery between 2007 and 2017 were identified from a single institution's skeletal dysplasia registry. Read More

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February 2021

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

J Clin Lab Anal 2021 Apr 16;35(4):e23728. Epub 2021 Feb 16.

Department of Orthopedics, Shanghai Key Laboratory of Orthopedic Implants, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retinal degeneration with retinal detachment and cleft palate. Read More

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Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Mol Genet Genomic Med 2021 Mar 11;9(3):e1620. Epub 2021 Feb 11.

Research Centre for Medical Genetics, Moscow, Russia.

Background: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and COL11A2 genes. Autosomal recessive forms are rare. Read More

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[Short-term outcomes of total hip arthroplasty in the treatment of Tönnis grade 3 hip osteoarthritis in patients with spondyloepiphyseal dysplasia].

Beijing Da Xue Xue Bao Yi Xue Ban 2020 Dec;53(1):175-182

Institute of Arthritis, Peking University People's Hospital, Beijing 100044, China.

Objective: Severe hip osteoarthritis, caused by bone or joint maldevelopment, biomechanical transformation and previous surgical intervention, is inclusively existed in spondyloepiphyseal dysplasia (SED). To investigate and discuss the short-term efficacy and possible effects of total hip arthroplasty in the treatment of Tönnis grade 3 hip osteoarthritis in patients with SED.

Methods: From January 2017 to June 2019, 374 patients with hip osteoarthritis were involved for total hip arthroplasty conducted by senior professional surgeons, of whom 9 patients (6 males and 3 females) with 12 hip osteoarthritis secondary to the SED met the inclusive and exclusive criteria and received the above-mentioned hip operation. Read More

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December 2020

Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

S Afr Med J 2020 Dec 14;111(1):57-60. Epub 2020 Dec 14.

Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa.

Background: Namaqualand hip dysplasia (NHD) is a mild form of spondyloepiphyseal dysplasia in which progressive arthropathy of the hip joint is a major manifestation. The disorder was documented in a multigenerational South African (SA) family with antecedents from Namaqualand, a region in the north-west of the country. Linkage analysis revealed a locus that includes the collagen type II gene, COL2A1. Read More

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December 2020

Radiologic Features of Type II and Type XI Collagenopathies.

Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13.

From the Department of Radiology, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242 (A.H.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (G.G.); and Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan (G.N.).

Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene lead to an abnormal structure of type II collagen, causing a large group of skeletal dysplasias termed Because type II collagen is also located in the vitreous body of the eyes and inner ears, type II collagenopathies are commonly associated with vitreoretinal degeneration and hearing impairment. Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler group. Read More

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November 2020

X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India.

J Orthop Case Rep 2020 ;10(2):1-4

Centre for Medical Genetics, Ecstasy Business Park, Mumbai, Maharashtra, India.

Introduction: X-linked spondyloepiphyseal dysplasia tarda(SEDT) is a type of shorttrunk skeletal dysplasia, occurring in males due to mutation in TRAPPC2 gene.

Case Report: We describe a large Indian family with multiple males affected with X-linked SEDT. The affected individuals presented with disproportionate short stature, short trunk, and barrel-shaped chest. Read More

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January 2020

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.

JIMD Rep 2020 Sep 30;55(1):68-74. Epub 2020 Jun 30.

Genetics and Molecular Pathology SA Pathology [at Women's and Children's Hospital] Adelaide South Australia Australia.

Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, -acetylgalactosamine 6-sulphatase (GALNS). Consequently, partially degraded GAG, chondroitin 6-sulfate (CS) and keratan sulfate (KS), accumulate in the lysosomes of affected cells, primarily in cartilage resulting in skeletal disease. Excessive urinary excretion of these GAG is often used as the initial biochemical parameter to inform a laboratory diagnosis. Read More

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September 2020

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

Eur J Med Genet 2020 Dec 5;63(12):104059. Epub 2020 Sep 5.

University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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. With the exception of a few reported cases, these dysplasias are predominantly caused by heterozygous variants in the COL2A1 gene and hence show an autosomal dominant inheritance pattern. Here we report on two siblings, originating from a consanguineous family, who presented with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment. Read More

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December 2020

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Am J Med Genet A 2020 11 28;182(11):2715-2721. Epub 2020 Aug 28.

Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. We describe an 8-year-old boy who presented with short trunk, C2-C3 vertebral fusion, hand, foot, leg and thigh pain, stiffness and limited joint mobility, and waddling gait. Radiographs showed platyspondyly with anterior wedging and endplate irregularities, broad femoral necks, and large epiphyses and epiphyseal equivalents. Read More

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November 2020

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.

BMC Med Genet 2020 05 29;21(1):117. Epub 2020 May 29.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoarthritis. Clinical diagnosis can be challenging due to the late-onset of the disease and lack of systemic metabolic abnomalites. Read More

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A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skeletal developmental defects in humans.

Bone 2020 08 22;137:115450. Epub 2020 May 22.

Key Lab for Zoonoses Research, Ministry of Education, Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University, 130062 Changchun, China. Electronic address:

Loss-of-function mutations in the COL2A1 gene were previously described as a cause of type II collagenopathy (e.g., spondyloepiphyseal dysplasia, Stickler syndrome type I), a major subgroup of genetic skeletal diseases. Read More

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Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.

Stem Cell Res 2020 05 11;45:101843. Epub 2020 May 11.

Murdoch Children's Research Institute, Australia; Department of Paediatrics, University of Melbourne, Australia.

To produce an in vitro model of the human chondrodysplasia, spondyloepiphyseal dysplasia congenita, we used CRISPR/Cas9 gene editing to generate a heterozygous patient COL2A1 mutation in an established control human iPSC line. The gene-edited heterozygous COL2A1 p.R989C line had a normal karyotype, expressed pluripotency markers, and could differentiate into cells representative of the three embryonic germ layers. Read More

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Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

Am J Med Genet A 2020 07 18;182(7):1796-1800. Epub 2020 May 18.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. Read More

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Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.

BMC Nephrol 2020 05 11;21(1):170. Epub 2020 May 11.

Department of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.

Background: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly proposed disease entity characterized by microspheres or microtubular structures associated with podocytes infolding into the glomerular basement membrane (GBM) on electron microscopy (EM).

Case Presentation: A 4-year-old boy was admitted to our ward due to proteinuria and edema lasting 1 month. Read More

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Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications.

J Arthroplasty 2020 08 9;35(8):1993-2001. Epub 2020 Apr 9.

Department of Orthopedic Surgery, Hospital for Special Surgery, New York, New York.

Background: Skeletal dysplasias are a heterogeneous group of >400 genetic disorders characterized by abnormal bone growth. Many individuals experience joint pain and limitation, coming to require joint replacement much earlier than the average-statured population. In addition, prosthesis survival rate is less in the dysplastic population. Read More

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Conventional cementless total hip arthroplasty in patients with dwarfism with height less than 140 cm and minimum 10-year follow up: A clinical study.

J Orthop Sci 2021 Jan 2;26(1):128-134. Epub 2020 Mar 2.

Department of Orthopaedic Surgery, Faculty of Medicine, Saga University, Nabeshima 5-1-1, Saga, 849-8501, Japan. Electronic address:

Background: Orthopedic complications can cause issues and severe disability in patients with dwarfism. Thus, these individuals frequently undergo total hip arthroplasty to mitigate decline in daily functioning. Although studies have reported on the difficulties of orthopedic surgery in patients with dwarfism, many do not clearly define dwarfism and have a short follow-up period. Read More

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January 2021

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

Brain Dev 2020 May 27;42(5):408-413. Epub 2020 Feb 27.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy. Electronic address:

Introduction: Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations include microcephaly, cognitive impairment, migraine-like headaches and cerebrovascular manifestations such as cerebral atherosclerotic vascular disease and reversible cerebral vasoconstriction. Read More

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