scholarly journals A primer on skeletal dysplasias

2021 ◽  
Author(s):  
Atsuhiko Handa ◽  
Gen Nishimura ◽  
Malia Xin Zhan ◽  
D. Lee Bennett ◽  
Georges Y. El-Khoury
Keyword(s):  
Pattern Recognition ◽  
Skeletal Dysplasia ◽  
Genetic Disorders ◽  
Heterogeneous Group ◽  
Radiological Diagnosis ◽  
Skeletal Dysplasias ◽  
Skeletal Changes ◽  
The World

AbstractSkeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. They are individually rare, but collectively rather common with an approximate incidence of 1/5000. Thus, radiologists occasionally encounter skeletal dysplasias in their daily practices, and the topic is commonly brought up in radiology board examinations across the world. However, many radiologists and trainees struggle with this issue because of the lack of proper resources. The radiological diagnosis of skeletal dysplasias primarily rests on pattern recognition—a method that is often called the “Aunt Minnie” approach. Most skeletal dysplasias have an identifiable pattern of skeletal changes composed of unique findings and even pathognomonic findings. Thus, skeletal dysplasias are the best example to which the Aunt Minnie approach is readily applicable.

Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities

2018 ◽  
Vol 22 (01) ◽  
pp. 066-080 ◽  
Author(s):  
Mahesh Thapa ◽  
Jeffrey Otjen ◽  
Shawn Kamps ◽  
Anh-Vu Ngo
Keyword(s):  
Genetic Testing ◽  
Skeletal Dysplasia ◽  
Growth And Development ◽  
Heterogeneous Group ◽  
Skeletal Dysplasias ◽  
And Cartilage

AbstractSkeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.

Skeletal Dysplasias

2019 ◽  
pp. 231-234
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Case ◽  
Long Bone ◽  
Case Presentation ◽  
Skeletal Dysplasias ◽  
Skeletal Changes ◽  
Testing Approach ◽  
Aid Decision

This chapter discusses a general approach to diagnosing and preparing for the birth of an infant with a skeletal dysplasia. The discussion on the prenatal evaluation includes the importance of the gestational age at which US skeletal changes are apparent, the assessment of body proportions, as well as nd bone density and morphology. The ratio of long bone to chest circumference can guide a determination of viability or lethality. Rapid targeted prenatal exome testing may aid decision making. Formation of a prenatal birth plan is suggested. Recommendations on evaluating an infant with a skeletal dysplasia after birth include how and what to measure, what radiographs to order and how to pick the most relevant genetic testing approach. The importance of genetic follow up is stressed. The clinical case presentation features an infant with hypochondrogenesis.

scholarly journals Metaphyseal dysplasia, Spahr type: a mimicker of rickets

2019 ◽  
Vol 12 (8) ◽  
pp. e230257
Author(s):  
Muthuvel Balasubramaniyan ◽  
Anupriya Kaur ◽  
Anindita Sinha ◽  
Nirmal Raj Gopinathan
Keyword(s):  
Exome Sequencing ◽  
Lower Limb ◽  
Skeletal Dysplasia ◽  
Type A ◽  
Heterogeneous Group ◽  
Rare Disorder ◽  
Skeletal Dysplasias ◽  
Metaphyseal Dysplasia

Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.

scholarly journals Clinico – Radiological Study of Skeletal Dysplasias

2020 ◽  
Vol 8 (1) ◽  
pp. 166-171
Author(s):  
B. Vanaja ◽  
M Veena ◽  
Shivaji Gogi
Keyword(s):  
Skeletal Dysplasia ◽  
Skeletal Development ◽  
Biochemical Tests ◽  
Radiological Study ◽  
Skeletal Dysplasias ◽  
Radiological Features ◽  
The World ◽  
Proper Diagnosis ◽  
Different Parts

Background: Skeletal dysplasia and osteochondrodysplasia refer to a genetically and clinically heterogeneous group of disorders of skeletal development and growth. Their prevalence is about 1 in 4000 births. Skeletal dysplasia is prevalent worldwide and its prevalence varies in different parts of the world and even in the same country varies from region to region. The objective is to study the prevalence of skeletal dysplasia based on clinico-radiological features. Subjects and Methods: A hospital retro prospective based study of skeletal dysplasia’s was conducted over a period of 2 years in which 100 cases of skeletal dysplasia’s were studied and were grouped according to international classification       of osteochondrodysplasia’ s revised in 2006. Results: 100 cases of skeletal dysplasia’s were detected by various modes of examination like clinical, radiological (radiographs, USG, CT scan, MRI, echocardiography), genetic and biochemical tests. Among 100 cases 22 cases showed clinico-radiologically concordance, 45 cases showed clinico-radiological complement and 40 cases showed clinico-radiological discordance. Conclusion: Our study makes an important observation that only clinical evaluation detected only 20% of skeletal dysplasia’s; and hence the importance of clinic-radiological evaluation in the proper diagnosis of skeletal dysplasia’s.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

2021 ◽  
Author(s):  
Lucia Sentchordi-Montané ◽  
Sara Benito-Sanz ◽  
Miriam Aza-Carmona ◽  
Francisca Díaz-González ◽  
Silvia Modamio-Høybjør ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Genetic Defect ◽  
Radiological Feature ◽  
Molecular Defect ◽  
Skeletal Dysplasias ◽  
Skeletal Anomalies ◽  
Radiological Data ◽  
High Prevalence ◽  
Next Generation Sequencing Ngs

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n=10) and IHH (n=7) whilst one variant was detected in COL2A1, CREBBP, EXT1 and PTPN11. Statistically significant differences (p<0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio SDS and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.

scholarly journals New perspectives on the treatment of skeletal dysplasia

2020 ◽  
Vol 11 ◽  
pp. 204201882090401 ◽  
Author(s):  
Pauline Marzin ◽  
Valérie Cormier-Daire
Keyword(s):  
Skeletal Dysplasia ◽  
Multidisciplinary Approach ◽  
Cellular Therapy ◽  
Genetic Disorders ◽  
Pharmacological Therapy ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Therapeutic Approaches ◽  
New Therapeutic Approaches ◽  
Morquio A ◽  
Underlying Pathophysiology

The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic reticulum stress in metaphyseal dysplasia type Schmid or pseudoachondroplasia. Moreover, the treatment of hypophosphatasia or Morquio A disease illustrates the efficacy of enzyme drug replacement. To provide a highly specialized multidisciplinary approach, these treatments are managed by reference centers. The emergence of treatments in skeletal dysplasia provides new perspectives on the prognosis of these severe conditions and may change prenatal counseling in these diseases over the coming years.

scholarly journals Pattern Recognition: Using Rocks, Wind, Water, Anxiety, and Doom Scrolling in a Slow Apocalypse (to Learn More About Methods for Changing the World)

2020 ◽  
pp. 107780042096019
Author(s):  
Annette N. Markham
Keyword(s):  
Pattern Recognition ◽  
Grounded Theory ◽  
Temporary Housing ◽  
Scale Change ◽  
The World ◽  
Fractal Patterns ◽  
Massive Scale ◽  
The Difference

In 5 months of COVID isolation, living out of a suitcase in temporary housing, countless fractal patterns emerged. I can’t say if I created these patterns by looking for them, or that I know the whole world by looking at a grain of sand. The truth of the matter is that it feels like the key for massive scale change is just in front of us, but slipping from our grasp. As we move through these days, weeks, and months, we have very little time before the difference recedes again. I address this matter of concern as a matter of method in performative grounded theory piece.

scholarly journals Inherited epidermolysis bullosa: clinical and therapeutic aspects

2013 ◽  
Vol 88 (2) ◽  
pp. 185-198 ◽  
Author(s):  
Vanessa Lys Simas Yamakawa Boeira ◽  
Erica Sales Souza ◽  
Bruno de Oliveira Rocha ◽  
Pedro Dantas Oliveira ◽  
Maria de Fátima Santos Paim de Oliveira ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Genetic Disorders ◽  
Heterogeneous Group ◽  
Histopathological Findings ◽  
Reasonable Explanation ◽  
Minimal Trauma ◽  
Inherited Epidermolysis Bullosa ◽  
History Of

Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be investigated. Diagnosis must be based on clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages.

scholarly journals Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Penelope J. Ireland ◽  
Ravi Savarirayan ◽  
Tash Pocovi ◽  
Tracy Tate ◽  
Marie Coussens ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Screening Tool ◽  
Functional Performance ◽  
Genetic Disorders ◽  
Population Group ◽  
Functional Mobility ◽  
Leg Length ◽  
6Mwt Distance ◽  
Patient Reported ◽  
At Home

Abstract Background Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify functional mobility performance, they have not been standardly used in this population group and do not capture patient-reported symptoms such as pain or fatigue. This study evaluated a new tool, the Screening Tool for Everyday Mobility and Symptoms (STEMS), designed to accurately and objectively assess functional mobility and associated symptomology for individuals with skeletal dysplasia. Methods Individuals aged 5–75 years with a skeletal dysplasia completed the STEMS, the Functional Mobility Scale (FMS) and Six Minute Walk Test (6MWT). The correlation among the STEMS, use of mobility aides, FMS and 6MWT normalised for leg length was calculated. One-way analysis of variance compared the STEMS symptomatology to normalised 6MWT distance. Results One hundred and fifty individuals with skeletal dysplasia (76 achondroplasia, 42 osteogenesis imperfecta, 32 other; 74 < 18 years, 76 ≥ 18 years) participated. Almost two thirds of the group reported pain and/or fatigue when mobilising at home, at work or school and within the community, but only twenty percent recorded use of a mobility device. The STEMS setting category demonstrated highly significant correlations with the corresponding FMS category (r = − 0.983 to − 0.0994, all p < 0.001), and a low significant correlation with the normalised 6MWT distance (r = − 0.323 to − 0.394, all p < 0.001). A decreased normalised 6MWT distance was recorded for individuals who reported symptoms of pain and/or fatigue when mobilising at home or at work/school (all p ≤ 0.004). Those who reported pain only when mobilising in the community had a normal 6MWT distance (p = 0.43–0.46). Conclusions The Screening Tool for Everyday Mobility and Symptoms (STEMS) is a useful new tool to identify and record mobility aide use and associated self-reported symptoms across three environmental settings for adults and children with skeletal dysplasia. The STEMS may assist clinicians to monitor individuals for changes in functional mobility and symptoms over time, identify individuals who are functioning poorly compared to peers and need further assessment, and to measure effectiveness of treatment interventions in both clinical and research settings.

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