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Your search keyword '"Spondylo epi metaphyseal dysplasia"' showing total 5 results
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5 results on '"Spondylo epi metaphyseal dysplasia"'

1. Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report

Author

Hiroshi Taneichi, Yutaka Nohara, Daisaku Takeuchi, Satoshi Inami, Hiroshi Moridaira, and Takafumi Chiba

Subjects
medicine.medical_specialty, business.industry, Spondylo epi metaphyseal dysplasia, lcsh:Surgery, growing rod, lcsh:RD1-811, SEMD, Clinical Correspondence, medicine.disease, staged surgery, Surgery, severe spinal deformity, Staged surgery, prior foundation surgery, Medicine, Orthopedics and Sports Medicine, Neurology (clinical), Growing rod, business, Early onset scoliosis, early-onset scoliosis, Kyphoscoliosis
Published
2020

2. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Author

Ok Hwa Kim, Anju Shukla, Gen Nishimura, Katta M. Girisha, Geert Mortier, Hitesh Shah, Amita Moirangthem, and Gandham SriLakshmi Bhavani

Subjects
0301 basic medicine, musculoskeletal diseases, Adult, Male, Heterozygote, Dwarfism, Genes, Recessive, 030105 genetics & heredity, Biology, Osteochondrodysplasias, Short stature, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, Child, Collagen Type II, Genetics (clinical), Exome sequencing, Spondylo epi metaphyseal dysplasia, Achondrogenesis type 2, medicine.disease, musculoskeletal system, Phenotype, Spine, Disease causation, 030104 developmental biology, Dysplasia, Spondyloepiphyseal dysplasia congenita, Child, Preschool, Mutation, Female, Human medicine, medicine.symptom, Epiphyses
Abstract

The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children. Here we report two additional families with homozygous variants, c.4135C>T (p.Arg1379Cys) and c.3190C>T (p.Arg1133Cys) in COL2A1 resulting in two distinct skeletal dysplasia phenotypes of intermediate severity. Though all six patients from four families exhibit a spondylo-epimetaphyseal dysplasia, they demonstrate a wide variation in severity of short stature and involvement of epiphyses, metaphyses, and vertebrae. We hypothesize that the variants are likely to be hypomorphic, given the underlying mechanisms of disease causation for known heterozygous variants in COL2A1. With this report, we provide further evidence to the existence of autosomal recessive Type 2 collagenopathy.

Published
2019

3. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

Author

Catarina Ferreira, Belinda Campos-Xavier, Jürgen Spranger, Sheila Unger, Florence Niel-Bütschi, Andrea Superti-Furga, and R. Curtis Rogers

Subjects
Joint Instability, Male, 0301 basic medicine, 030105 genetics & heredity, Osteochondrodysplasias, Joint laxity, 03 medical and health sciences, GTP-Binding Proteins, Genetic variation, Genetics, medicine, Humans, Genetic Testing, Child, Genetics (clinical), Genetic testing, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Spondylo epi metaphyseal dysplasia, Genetic Variation, Radiography, Phenotype, Mutation, Mutation (genetic algorithm), Female, business, Comparative genomic hybridization
Published
2018

4. Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis

Author

Fatih Mehmet Kelesoglu, Murat Uludag, Yaşar Keskin, Ozgur Taspinar, and KESKİN, YAŞAR

Subjects
medicine.medical_specialty, Pathology, Adolescent, Arthritis, Early detection, chemical and pharmacologic phenomena, Case Report, Disease, Progressive pseudorheumatoid dysplasia, 03 medical and health sciences, 0302 clinical medicine, Progressive pseudorheumatoid dysplasia, juvenile idiopathic arthritis, spondylo-epi-metaphyseal dysplasia, medicine, Juvenile, Humans, 030212 general & internal medicine, Diagnostic Errors, 030203 arthritis & rheumatology, business.industry, Spondylo epi metaphyseal dysplasia, General Medicine, medicine.disease, Dermatology, Arthritis, Juvenile, respiratory tract diseases, Dysplasia, juvenile idiopathic arthritis, Female, Joint Diseases, business, spondylo-epi-metaphyseal dysplasia
Abstract

Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic interventions. Case Details : We report the case of a 15-year-old girl with PPD who was misdiagnosed with JIA. Conclusion : In conclusion, PPD is a rare SEMD and can be confused with JIA, both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic interventions. Keywords : Progressive pseudorheumatoid dysplasia, juvenile idiopathic arthritis, spondylo-epi-metaphyseal dysplasia

Published
2016

5. Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Author

Luigi D. Notarangelo

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, Biology, N-Acetylglucosaminyltransferases, Osteochondrodysplasias, 03 medical and health sciences, Molecular genetics, Genetics, medicine, Humans, Genetics (clinical), Immunodeficiency, Spondylo epi metaphyseal dysplasia, Cytogenetics, Immunologic Deficiency Syndromes, medicine.disease, Prognosis, 030104 developmental biology, Phenotype, Developmental genetics, Statistical genetics, Dysplasia, Mutation, Commentary, Medical genetics
Abstract

Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Published
2017

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