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Achondroplasia

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2. [Motorized Intramedullary nails for bone lenghtening in achondroplasia or hypochondropasia]

[Motorized Intramedullary nails for bone lenghtening in achondroplasia or hypochondropasia] [Motorized Intramedullary nails for bone lenghtening in achondroplasia or hypochondropasia] [Motorized Intramedullary nails for bone lenghtening in achondroplasia or hypochondropasia] Klappenbach R, García Martí S, Pichon-Riviere A, Augustovski F, Alcaraz A, Bardach A, Ciapponi A Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA (...) . No evaluation of the quality of this assessment has been made for the HTA database. Citation Klappenbach R, García Martí S, Pichon-Riviere A, Augustovski F, Alcaraz A, Bardach A, Ciapponi A. [Motorized Intramedullary nails for bone lenghtening in achondroplasia or hypochondropasia] Buenos Aires: Institute for Clinical Effectiveness and Health Policy (IECS). Documentos de Evaluación de Tecnologías Sanitarias, Informe de Respuesta Rapida No 532. 2017 Authors' conclusions There is no evidence directly

2017 Health Technology Assessment (HTA) Database.

3. Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association (PubMed)

Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD). He was tested to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating (...) that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46

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2018 Endocrinology, diabetes & metabolism case reports

4. Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia (PubMed)

Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia Achondroplasia is a genetic mutation of fibroblast growth factor receptor resulting in impaired growth plate development in long bones due to lower collagen turnover. Despite the characteristic shorter stature and lower strength in Achondroplasic groups, little is known of the tendon mechanical properties under loading. The aim of this study was therefore to conduct a between measure design (...) of patella tendon (PT) mechanical properties (stress, strain, stiffness and Young's Modulus) in 10 men with Achondroplasia (22 ± 3 years) and 17 male controls (22 ± 2 years). PT mechanical properties were measured during isometric maximal voluntary contraction (iMVC) of the knee extensors using ultrasonography. The Achondroplasic group produced 54% less stress at iMVC than controls (29.4 ± 8.0 v 64.5 ± 14.0 MPa, P < 0.001, d = 3.12). Maximal excursion of the Achondroplasic PT was 22% less than controls

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2018 Frontiers in physiology

5. Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. (PubMed)

Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. To assess the performance of non-invasive prenatal testing (NIPT) for achondroplasia using high-resolution melting (HRM) analysis, and to propose an optimal diagnostic strategy combining ultrasound examination and cell-free fetal DNA (cffDNA) analysis.In this prospective multicenter study, cffDNA was extracted from blood of pregnant women at risk for fetal (...) achondroplasia (owing to paternal achondroplasia, previous affected child or suspected rhizomelic shortening) and of pregnant low-risk controls. The presence of either one of the two main fibroblast growth factor receptor 3 gene (FGFR3) mutations was determined using HRM combined with confirmation by SNaPshot minisequencing. Results were compared with phenotypes obtained using three-dimensional computed tomography or postnatal examination, and/or molecular diagnosis by an invasive procedure. Fetal biometry

2018 Ultrasound in Obstetrics and Gynecology

6. The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. (PubMed)

The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. A retrospective study.The aim of this study was to evaluate the outcome of brace treatment in the correction of thoracolumbar kyphosis (TLK) for patients with achondroplasia and to determine the factors associated with bracing efficacy.Brace treatment has been used to correct TLK in patients with achondroplasia. However, there was a paucity of knowledge concerning its effectiveness.A total of 33 (...) , percentage of apical vertebral wedging, and PT were independent factors associated with the correction of TLK.Brace treatment can effectively correct TLK and restore the morphology of apical vertebral body for patients with achondroplasia. Large TLK, severe apical vertebral wedging, presence of AVT, and low PT may be indicative of an unfavorable outcome, which should be taken into account at the initiation of bracing.4.

2018 Spine

7. The Oxygen Consumption and Metabolic Cost of Walking and Running in Adults With Achondroplasia (PubMed)

The Oxygen Consumption and Metabolic Cost of Walking and Running in Adults With Achondroplasia The disproportionate body mass and leg length of Achondroplasic individuals may affect their net oxygen consumption ([Formula: see text]O2) and metabolic cost (C) when walking at running compared to those of average stature (controls). The aim of this study was to measure submaximal [Formula: see text]O2 and C during a range of set walking speeds (SWS; 0.56 - 1.94 m⋅s-1, increment 0.28 m⋅s-1), set

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2018 Frontiers in physiology

8. Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging (PubMed)

Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse (...) models have been generated to study achondroplasia. The characterization of these preclinical models has been primarily done with 2D measurements. In this study, we explored the transgenic model expressing mouse Fgfr3 containing the achondroplasia mutation G380R under the Col2 promoter (Ach). Survival and growth rate of the Ach mice were reduced compared to wild-type (WT) littermates. Axial skeletal defects and abnormalities of the sternebrae and vertebrae were observed in the Ach mice. Further

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2018 Scientific reports

9. Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report (PubMed)

Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide. To the best of our knowledge, no study has reported a correlation between achondroplasia and aortic dissection. Here, we report a rare case of acute type A aortic dissection repair in a patient with achondroplasia.An 82-year-old Japanese female (...) with achondroplasia was admitted to our hospital because of acute-onset severe chest pain migration to her back accompanied by numbness and pain in the right lower limb. A computed tomography scan revealed acute type A aortic dissection with right leg ischemia because of an occlusion of the right common iliac artery. We successfully performed hemiarch repair.This report presents the first case of a patient at such an advanced age with dwarfism and cardiac surgery and the second case to illustrate successful acute

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2018 Surgical Case Reports

10. Natural history of 39 patients with Achondroplasia (PubMed)

Natural history of 39 patients with Achondroplasia To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016.Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead

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2018 Clinics

11. A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia

A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved (...) studies (100). Please remove one or more studies before adding more. A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03583697 Recruitment Status : Enrolling by invitation First Posted

2018 Clinical Trials

12. Achondroplasia with Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly. (PubMed)

Achondroplasia with Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly. We report the first case to our knowledge of a 1-week-old female infant with familial inherited achondroplasia associated with bilateral congenital onset glaucoma, posterior embryotoxon and iris hypoplasia suggestive of ocular Axenfeld-Rieger anomaly.

2018 Journal of Glaucoma

13. Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia. (PubMed)

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia. Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients. The purpose of this study was to analyze sustained hip flexion contracture in achondroplasia patients who underwent femoral lengthening and to identify contributing factors.This study included 34 patients with achondroplasia who underwent (...) contracture developed in 13 (38%) of 34 achondroplasia patients after femoral lengthening. Eight (62%) of these 13 patients concomitantly exhibited limitation of knee flexion. Excessive femoral lengthening (odds ratio [OR], 1.450; 95% confidence interval [CI], 1.064 to 1.975; p = 0.019) and forward sagittal vertical axis tilt (OR, 1.062; 95% CI, 1.001 to 1.127; p = 0.047) contributed to sustained hip flexion contracture.Sustained hip flexion contracture frequently occurs after femoral lengthening

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2018 BMC Musculoskeletal Disorders

14. Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report. (PubMed)

Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report. Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia.A 61-year-old (...) of kyphosis was observed 24 months postoperatively.Circumferential decompression of the spinal cord at the apical vertebral level and decompression of lumbar canal stenosis were necessary. Front-back correction of the anterior and posterior spinal elements via spondylectomy and lateral lumbar interbody fusion is a reasonable surgical option for thoracolumbar kyphosis and developmental canal stenosis in patients with achondroplasia.

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2017 Medicine

15. Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. (PubMed)

Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis (...) . Restrictive lung disease and obstructive sleep apnea may complicate respiratory status. Peripheral and central venous access can be difficult to obtain. Orthopedic and metabolic comorbidities can lead to a prolonged hospital course.A 17-year-old male patient with achondroplasia presented to the Emergency Department after a high-speed motor vehicle collision. Despite a negative computed tomography scan of the cervical spine and absence of neck pain, a magnetic resonance imaging evaluation was obtained due

2017 Journal of Emergency Medicine

16. Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia. (PubMed)

Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia. Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP (...) ) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. In this study, we analyzed craniofacial morphology in a mouse model of achondroplasia, in which fibroblast growth factor receptor 3 (FGFR3) is specifically activated in cartilage ( Fgfr3ach mice), and investigated the mechanisms of jaw deformities caused by this mutation. Furthermore, we analyzed the effect of CNP

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2017 Journal of Dental Research

17. Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. (PubMed)

Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. The purpose of this study is to investigate the morphometric changes of the subchondral bone during the development of osteoarthritis (OA) in transgenic mice with achondroplasia (Fgfr3ach ) carrying a heterozygous gain-of-function mutation in Fgfr3. Two OA models (spontaneously developed with age: The aging model, and surgically induced by destabilization

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2017 Journal of Orthopaedic Research

18. Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. (PubMed)

Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. We successfully treated a patient with achondroplasia with conventional orthodontic techniques. It was followed by long-term retention. The patient, a 12-year-old boy, had chief complaints of occlusal disturbance and mandibular protrusion. He had been diagnosed with achondroplasia and had growth hormone treatment in his early teenage years. His facial profile was concave with a bulging forehead (...) with a Class I molar relationship and an adequate interincisal relationship was achieved, despite the simultaneous marked vertical growth of the mandible. The resultant occlusion was stable during a 6-year retention period, although considerable forward-downward mandibular growth was observed. Conclusively, our results indicated the necessity of long-term observation in this patient with achondroplasia, especially because of the persistent mandibular growth.Copyright © 2017 American Association

2017 American journal of orthodontics and dentofacial orthopedics

19. Achondroplasia: Really rhizomelic?

Achondroplasia: Really rhizomelic? Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic." While this appearance may be convincing clinically, the description is not necessarily true or helpful radiologically. The aims of this study, were therefore, to determine whether rhizomelic shortening is a true feature of achondroplasia at diagnosis in infancy. Humeral, radial, femoral, and tibial (...) diaphyseal lengths were recorded by two independent observers from 22 skeletal surveys of infants with achondroplasia and compared with 150 normal age-matched control subjects. Upper and lower limb bone length ratios (radial/humeral and tibial/femoral lengths, respectively) in both groups were compared using an unpaired t-test. Mean upper limb length ratios were statistically higher within the achondroplasia group at 0.87 ± 0.04 (n = 22, mean age 70 ± 94 days) compared to normal controls at 0.79 ± 0.02

2017 American journal of medical genetics. Part A

20. An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia

An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove (...) one or more studies before adding more. An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03424018 Recruitment Status : Enrolling by invitation First Posted : February 6, 2018 Last Update Posted : July

2017 Clinical Trials

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