scholarly journals Fibrodysplasia Ossificans Progressiva: A Case Report

2018 ◽  
Vol 16 (2) ◽  
pp. 245-247
Author(s):  
Sudeep Acharya ◽  
Sandhya Joshi ◽  
Rajib Chaulagain
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Effective Treatment ◽  
Skeletal Muscles ◽  
Genetic Disorder ◽  
Later Life ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Permanent Disability ◽  
Radiological Features ◽  
The Individual

Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments, fascia and skeletal muscles leading to permanent disability. The prevalence is one in two million people. During childhood, it may be asymptomatic but in later life, progressive stiffness of major joints renders movement of the individual impossible. Currently, there is no effective treatment for this debilitating disease. Here, we present a case of 27 year old male with clinical and radiological features of fibrodysplasia ossificans progressiva.

scholarly journals Fibrodysplasia Ossificans Progressiva: A Case Report

2018 ◽  
Vol 16 (2) ◽  
pp. 245-247
Author(s):  
Sudeep Acharya ◽  
Sandhya Joshi ◽  
Rajib Chaulagain
Keyword(s):  
Heterotopic Ossification ◽  
Skeletal Muscles ◽  
Myositis Ossificans ◽  
Genetic Disorder ◽  
Later Life ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Permanent Disability ◽  
Radiological Features ◽  
The Individual ◽  
Fibrodysplasia Ossificans Progressive

Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments, fascia and skeletal muscles leading to permanent disability. The prevalence is one in two million people. During childhood, it may be asymptomatic but in later life, progressive stiffness of major joints renders movement of the individual impossible. Currently, there is no effective treatment for this debilitating disease. Here, we present a case of 27 year old male with clinical and radiological features of fibrodysplasia ossificans progressiva.Keywords: Fibrodysplasia ossificans progressive; heterotopic ossification; myositis ossificans; myositis ossificans progressive.

scholarly journals Hajdu-Cheney Syndrome: First Case Report from Bangladesh

2012 ◽  
Vol 36 (2) ◽  
pp. 98-100
Author(s):  
Shahana A Rahman ◽  
Shohela Akhter ◽  
Farhana Bayes ◽  
Mashura Musharraf
Keyword(s):  
Case Report ◽  
Bone Resorption ◽  
Child Health ◽  
Connective Tissue ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Radiological Features ◽  
First Case ◽  
Wide Range ◽  
Medical University

Hajdu-Cheney syndrome is an extremely rare genetic disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other potential symtromes. The clinical presentation and typical radiological features help in confirming the diagnosis. Hajdu-Cheney syndrome had not been reported previously in our country. Because of the rarity of the problem, we are interested to report a case of Hajdu-Cheney syndrome who was admitted in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. DOI: http://dx.doi.org/10.3329/bjch.v36i2.13086 Bangladesh J Child Health 2012; Vol 36 (2): 98-100

scholarly journals Fibrodysplasia ossificans progressiva: A case report

2014 ◽  
Vol 5 (4) ◽  
pp. 113-115
Author(s):  
Sreedhar Vasala ◽  
V Dharma Rao ◽  
M Rajaneesh Reddy ◽  
P Ramyatha Reddy ◽  
K Murali
Keyword(s):  
Connective Tissue ◽  
Daily Living ◽  
Distal Part ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Fibrodysplasia Ossificans Progressiva ◽  
X Rays ◽  
Indian Literature ◽  
Medical Sciences ◽  
Heterotopic Ossifications

Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder with unknown cause. Disease is characterized by heterotopic ossifications of connective tissue and congenital malformations of distal part of extremities. Most cases are sporadic and transmitted as autosomal dominant. As very few cases of FOP are being reported in Indian literature, we, therefore, report one such case here. Our case is a 20 years-old female patient who had bilateral short great toes with hallux valgus associated with heterotopic ossifications of connective tissue with restrictions of range of motion and disability of daily living activities. We have diagnosed it as FOP based on our physical examination and skeletal x-rays findings. DOI: http://dx.doi.org/10.3126/ajms.v5i4.9915 Asian Journal of Medical Sciences 2014 Vol.5(4); 113-115

Fibrodysplasia Ossificans Progressiva and Its Implications in Podiatric Medicine: A Case Report

2019 ◽  
Vol 109 (4) ◽  
pp. 317-321
Author(s):  
Nicholas Bolognini ◽  
Neil Navendu Trivedi ◽  
Andrew S. Au ◽  
Nishit Vora
Keyword(s):  
Case Report ◽  
Endochondral Ossification ◽  
Pediatric Patients ◽  
Soft Tissues ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Surgical Excision ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Irreversible Damage ◽  
Dental Procedures

The purpose of this case report is to show the clinical presentation of a rare genetic disorder, called fibrodysplasia ossificans progressiva, on the development of the foot in a newborn. Shortened great toes and malformations of the first metatarsals are present in all affected individuals at birth. Irreversible heterotopic endochondral ossification of soft tissues occurs in the first decade of life, often resulting in permanent immobility by the third decade of life. Trauma caused by surgical excision of nodules, dental procedures, or injections can further exacerbate this condition. Early diagnosis is imperative for these patients to prevent irreversible damage that may result from unnecessary invasive interventions. This case report presents a boy aged 2 years 3 months who was born with bilateral bunion deformity. The goal is to raise awareness of this disorder in the podiatric community, especially for those who work with pediatric patients.

scholarly journals Thrombocytopenia absent radii syndrome in a twenty five day old female neonate: a case report

2016 ◽  
Vol 3 (1) ◽  
pp. 10
Author(s):  
Mohammed Danfulani ◽  
Abubakar Musa ◽  
Sadisu M. Ma'aji ◽  
Sule A. Saidu ◽  
Muhammad A. Musa
Keyword(s):  
Case Report ◽  
Elbow Joint ◽  
Wrist Joint ◽  
Genetic Disorder ◽  
Platelet Counts ◽  
Radiological Features ◽  
Radial Deviation ◽  
Rare Genetic Disorder ◽  
Tar Syndrome

<p class="abstract">Thrombocytopenia absent radii (TAR) is a rare genetic disorder associated with multiple additional anomalies. We report a case of a 25 day old female neonate with thrombocytopenia and bilateral absent radii with flexion of the elbow joint and radial deviation of the wrist joint. TAR, although rare are not uncommon. Thus, we have presented a 25 day old neonate with radiological features of absent radii and fluctuating platelet counts that subsequently showed thrombocytopenia that warranted the diagnosis of TAR syndrome in this case<span lang="EN-IN">. </span></p><p class="abstract"> </p>

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Therapeutic management of malignant glioma in pregnancy: a case report highlighting clinical and radiological features at diagnosis and after intervention

2020 ◽  
Vol 3 (68) ◽  
pp. 147
Author(s):  
Ioniţă Ducu ◽  
Roxana-Elena Bohîlţea ◽  
Dan Teleanu ◽  
Natalia Ţurcan ◽  
Monica Mihaela Cîrstoiu
Keyword(s):  
Case Report ◽  
Malignant Glioma ◽  
Therapeutic Management ◽  
Radiological Features ◽  
In Pregnancy

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

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