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.

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.

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.

scholarly journals Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

2017 ◽  
Vol 25 (8) ◽  
pp. 960-965 ◽  
Author(s):  
Muhammad Umair ◽  
Khadim Shah ◽  
Bader Alhaddad ◽  
Tobias B Haack ◽  
Elisabeth Graf ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Splice Site ◽  
Lower Limb ◽  
Type A ◽  
Splice Site Variant

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 Surgical Fenestration for Acute Type A Aortic Dissection with Visceral and Lower Limb Ischemia and Paraplegia

2021 ◽  
Vol 50 (6) ◽  
pp. 405-409
Author(s):  
Kiyotaka Suzuki ◽  
Keiji Uchida ◽  
Tomoyuki Minami ◽  
Tomoki Cho ◽  
Yusuke Matsuki ◽  
...  
Keyword(s):  
Aortic Dissection ◽  
Lower Limb ◽  
Limb Ischemia ◽  
Type A ◽  
Acute Type ◽  
Type A Aortic Dissection ◽  
Lower Limb Ischemia

Type A acute aortic dissection complicated by lower limb ischemia

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Andrea Daprati ◽  
Andrea Garatti ◽  
Alberto Canziani ◽  
Alessandro Parolari
Keyword(s):  
Aortic Dissection ◽  
Lower Limb ◽  
Acute Aortic Dissection ◽  
Limb Ischemia ◽  
Type A ◽  
Lower Limb Ischemia

Lymphoedema praecox in a young woman: a rare disease

2021 ◽  
Vol 14 (9) ◽  
pp. e245353
Author(s):  
Sri Hari Priya Vemulakonda ◽  
Naveen Kumar Gaur ◽  
Oseen Hajilal Shaikh ◽  
Uday Shamrao Kumbhar
Keyword(s):  
Rare Disease ◽  
Young Woman ◽  
Lower Limb ◽  
Young Age ◽  
Rare Disorder ◽  
Imaging Studies ◽  
Left Lower Limb ◽  
History Of

Primary lymphoedema is a rare disorder. Often presents at a young age with asymptomatic limb oedema with gradual progression. We present a 16-year-old woman who presented with a history of swelling of the left lower limb for 6 years. There was the presence of isolated left lower limb oedema, which was a non-pitting type. The patient underwent imaging studies and was diagnosed to have primary lymphoedema. The patient was managed conservatively as the patient did not have any other problems other than the left lower limb oedema.

scholarly journals Botulinum Toxin Type A Improves Function According to Goal Attainment in Adults with Poststroke Lower Limb Spasticity in Real Life Practice

2019 ◽  
Vol 82 (1-3) ◽  
pp. 1-8 ◽  
Author(s):  
Lourdes López de Munain ◽  
Josep Valls-Solé ◽  
Irene Garcia Pascual ◽  
Pascal Maisonobe ◽  
Keyword(s):  
Botulinum Toxin ◽  
Lower Limb ◽  
Goal Attainment ◽  
Botulinum Toxin Type A ◽  
Real Life ◽  
Type A ◽  
Botulinum Toxin Type ◽  
Goal Achievement ◽  
Limb Spasticity ◽  
Lower Limb Spasticity

Introduction: Botulinum toxin type A (BoNT-A) is an effective and well-tolerated treatment for adult lower limb spasticity. However, data are inadequate to determine BoNT-A efficacy for active function. This study evaluated functional goal achievement (measured by goal attainment scaling [GAS]) following lower limb BoNT-A injection in clinical practice. Methods: Phase 4, postmarketing, multicenter, prospective, observational study (NCT01444794) in adults with poststroke lower limb spasticity receiving one BoNT-A injection cycle. Assessments were at baseline (pretreatment), 1 month ±7 days (visit 1), and 3–5 months posttreatment (visit 2). Primary outcome measure was GAS; additional assessments included Modified Ashworth Scale, Demeurisse Motricity Index, 10-meter walk test, and Disability Assessment Scale. Results: Of 100 enrolled patients, 94 completed the study. Most common primary treatment goals at baseline were improving mobility (57.5%) and positioning (18.1%). At visit 2, 88.3% achieved their primary goal; 87.0% (n = 47/54) for mobility, and 100.0% (n = 17/17) for positioning. In total, 79.1% of patients achieved their secondary goals. Two factors were predictive of primary goal achievement: time since stroke onset (OR 0.907; 95% CI 0.827–0.995; p = 0.038); and absence of stiff knee spasticity pattern (OR 0.228; 95% CI 0.057–0.911; p = 0.036). All functional scales showed improvements; walking speed (mean [SD]) improved by 0.06 (0.13) and 0.05 (0.20) m/s at visits 1 and 2, respectively. Conclusions: BoNT-A injection for lower limb spasticity led to high goal achievement rates in patient-centered GAS evaluation and functional and symptomatic improvements. BoNT-A may therefore deliver clinically meaningful functional improvements in real-life practice.

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