907 results match your criteria Imaging in Achondroplasia

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia.

J Neuroimaging 2022 Jun 12. Epub 2022 Jun 12.

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Background And Purpose: Whole-spine magnetic resonance imaging (MRI) studies, to identify structural abnormalities associated with the development of symptomatic spinal stenosis in achondroplasia.

Methods: Forty-two subjects with achondroplasia were grouped into four age-related categories. Congenital spinal deformities (vertebral body and disc height, interpedicular distance), acquired spinal degenerative changes, thoracic kyphotic (TK) angle, thoracolumbar kyphotic (TLK) angle, spinal canal widths were evaluated by MRI. Read More

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[Clinical features and mutations of children with achondroplasia].

Zhongguo Dang Dai Er Ke Za Zhi 2022 Apr;24(4):405-410

Department of Pediatrics, First Affiliated Hospital of Air Force Military Medical University, Xi'an 710032, China.

Objectives: To study the clinical features and fibroblast growth factor receptor 3 () gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.

Methods: A retrospective analysis was performed on the clinical data and gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.

Results: Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). Read More

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New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.

Childs Nerv Syst 2022 Jun 3;38(6):1137-1145. Epub 2022 May 3.

Claude Bernard Lyon 1 University, Lyon, France.

Purpose: To characterize natural history and early changes of craniovertebral junction stenosis in achondroplasia correlating with clinical and radiological outcome.

Methods: Retrospective measures on craniovertebral junction were performed blindly, on sagittal T2-weighted images, in 21 patients with achondroplasia referred from 2008 to 2020. Clinical and polysomnography data were retrospectively collected. Read More

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The (extended) achondroplasia foramen magnum score has good observer reliability.

Pediatr Radiol 2022 Apr 9. Epub 2022 Apr 9.

Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.

Background: Achondroplasia is the most common skeletal dysplasia. A significant complication is foramen magnum stenosis. When severe, compression of the spinal cord may result in sleep apnea, sudden respiratory arrest and death. Read More

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Cranial features of achondroplasia presenting with headaches.

Br J Hosp Med (Lond) 2022 03 31;83(3). Epub 2022 Mar 31.

Department of Medical Imaging, Mater Dei Hospital, Msida, Malta.

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Lower Back Pain Heralding Cauda Equina Syndrome in a Patient With Achondroplasia.

Cureus 2022 Feb 19;14(2):e22380. Epub 2022 Feb 19.

Physical Medicine and Rehabilitation, Hacettepe University Medical School, Ankara, TUR.

Achondroplasia is the most common cause of congenital dwarfism and is associated with multiple complications due to impaired skeletal development. Herein, we report a 21-year-old woman with achondroplasia experiencing lower back pain which progressed to lower limb weakness and urinary retention. Magnetic resonance imaging revealed decreased interpedicular distance and severe stenosis of the lumbosacral spinal canal. Read More

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February 2022

Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.

Childs Nerv Syst 2022 Jun 12;38(6):1147-1154. Epub 2022 Mar 12.

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Purpose: To identify MRI-based quantitative craniofacial variables linked to airways narrowing and obstructive sleep apnea (OSA) development in children with achondroplasia.

Methods: We evaluated skull base and midface MRI in two cohorts of children affected by achondroplasia, with (group 1) or without OSA (group 2). 3DFSPGR-T1weighted images were used to assess airways volume (nasopharynx, oropharynx, and laryngopharynx), jugular foramina (JF) and hypoglossal foramina (HF) areas, foramen magnum area, cervical cord area, and maxillary retrusion (SNA angle). Read More

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Longitudinal Imaging of the Skull Base Synchondroses Demonstrate Prevention of a Premature Ossification After Recifercept Treatment in Mouse Model of Achondroplasia.

JBMR Plus 2022 Feb 9;6(2):e10568. Epub 2021 Nov 9.

InnoSkel Biot France.

Achondroplasia is the most common form of short-limb dwarfism. In this disorder, endochondral ossification is impaired due to gain-of-function mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. In addition to short limbs, cranial base bones are also affected leading to shortening of the skull base and to serious neurological complications associated with foramen magnum stenosis. Read More

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February 2022

Mitral and tricuspid repair in an adult achondroplastic patient.

J Card Surg 2022 May 13;37(5):1425-1427. Epub 2022 Feb 13.

Department of Cardiothoracic Surgery, Weill Cornell Medicine, New York, New York, USA.

Achondroplasia is a rare genetic disorder with multiple anatomic abnormalities making surgery, and anesthesia more challenging. The reported cases of cardiac interventions in this population are few, and to the best of our knowledge, only 16 cases are documented. Herein, we represent the first case of mitral and tricuspid repair in one of these patients, which performed without the need for specific equipment with a smooth postoperative course. Read More

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Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases.

Epilepsy Behav 2022 01 16;126:108479. Epub 2021 Dec 16.

Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address:

Hypochondroplasia is a skeletal dysplasia syndrome with an autosomal dominant inheritance. It may be associated with temporal lobe epilepsy. We present a series of four patients (two female, two male) with hypochondroplasia who presented at our center with drug refractory epilepsy. Read More

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January 2022

Rare case of severe non-calcific aortic stenosis in an achondroplastic dwarf: surgical consideration.

Interact Cardiovasc Thorac Surg 2022 02;34(3):495-497

Department of Cardiovascular Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

A 41-year-old patient with achondroplasia who had undergone surgery for congenital aortic stenosis >20 years ago presented with dyspnoea due to severe aortic stenosis. Computed tomography confirmed a small (16-mm) aortic annulus, thickened aortic valve leaflets without calcification and subaortic fibrous tissues. Intraoperatively, 3 non-calcific aortic leaflets were observed. Read More

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February 2022

Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study.

Acta Radiol 2021 Nov 13:2841851211055821. Epub 2021 Nov 13.

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Background: Most infants and children with achondroplasia show delayed motor skill development; however, some patients may have clinical consequences related to cranio-cervical junction stenosis and compression.

Purpose: To assess, using brain magnetic resonance imaging (MRI), quantitative variables linked to neuromotor impairment in achondroplasic children.

Material And Methods: In total, 24 achondroplasic children underwent pediatric neurological assessment and were grouped in two cohorts according to relevant motor skill impairment. Read More

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November 2021

Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.

Calcif Tissue Int 2022 03 28;110(3):313-323. Epub 2021 Oct 28.

Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia type 1 (MED1) are two rare skeletal disorders caused by cartilage oligomeric matrix protein (COMP) variants. This study aims to analyze the genotype and phenotype of patients with COMP variants. Clinical information for 14 probands was collected; DNA was extracted from blood for COMP variant detection. Read More

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A Novel Splicing Variant of in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Genes (Basel) 2021 09 10;12(9). Epub 2021 Sep 10.

Medical Genetics Unit, Department of Health Sciences, University "Magna Graecia" of Catanzaro, 88100 Catanzaro, Italy.

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in . Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we reported a case of a novel splicing variant of in a fetus with ACG2. Read More

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September 2021

Multilevel thoracic and lumbar ligamentum flavum ossification in an achondroplasic-a rare presentation.

Spinal Cord Ser Cases 2021 07 31;7(1):69. Epub 2021 Jul 31.

Department of Spine Surgery, Indian Spinal Injuries Center, New Delhi, India.

Introduction: Achondroplasia is a rare autosomal dominant condition characterized by stenosis in spinal canal. Multilevel Ossification of the ligamentum flavum in the spine is a rare occurrence which too can contribute to stenosed canal.

Case Presentation: We report a case of an Indian achondroplasic dwarf with multilevel ossification of ligamentum flavum (OLF) at thoracic and lumbar segment. Read More

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Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression.

Pediatr Neurosurg 2021 28;56(5):471-476. Epub 2021 Jul 28.

Department of Neurosurgery, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

Introduction: Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spinal stenosis is frequent and due to premature fusion of the pedicles to the laminae.

Case Presentation: We report a case of neurogenic bladder and fecal incontinence due to lumbar stenosis successfully treated with L1-L5 partial laminectomy and foraminotomy in a 7-year-old achondroplasic child. Read More

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October 2021

Total knee arthroplasty in a young patient with achondroplasia.

BMJ Case Rep 2021 Jul 8;14(7). Epub 2021 Jul 8.

Villa Erbosa Hospital, Bologna, Italy.

Achondroplasia is a genetic skeletal dysplasia, characterised by dwarfism, with upper and lower limb deformities, that can lead to knee osteoarthritis; the surgical treatment is a challenge due to the particular joint anatomy variances. We present a 40-year-old woman, affected by achondroplasia with severe left knee osteoarthritis; the patient was treated conservatively with poor results. Between the ages of 12 and 17 years, she underwent multiple operative procedures for lower limb lengthening and a partial correction of the valgus deformity, by applying an external fixator. Read More

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[Intramedullary Nailing of Supracondylar Femoral Fracture in Patient with Achondroplasia. Small Size Matters].

Acta Chir Orthop Traumatol Cech 2021 ;88(3):233-236

II. ortopedicko-traumatologická klinika Lekárskej fakulty Univerzity Komenského a Univerzitnej nemocnice Bratislava, Nemocnica sv. Cyrila a Metoda, Bratislava.

In patients with defect bone growth and dwarfism, fractures of the weight bearing skeleton are relatively rare due to their reduced mobility. When they do occur, their treatment and potential surgery are complicated. The commonly used therapeutic procedures are not applicable, the available implants are not suitable, if a surgery is necessary. Read More

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Reducing the fixed, angular kyphosis in the Achondroplasia patient.

E J Maloney

Stud Health Technol Inform 2021 06;280:300

Align Clinic, LLC, Green Bay, Wisconsin, USA.

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Prenatal diagnosis of genetic aberrations in fetuses with short femur detected by ultrasound: A prospective cohort study.

Prenat Diagn 2021 Aug 6;41(9):1153-1163. Epub 2021 Jul 6.

Department of Obstetrics & Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.

Objectives: To investigate the genetic aberrations in fetuses with short femur and explore the relationships with respect to degree of femoral shortening and the initial diagnostic gestational age GA.

Methods: Singleton pregnancies with fetal short femur who consented to amniocentesis and to single nucleotide polymorphism (SNP) array and Sanger sequencing for G380R mutations in FGFR3 gene were enrolled in this 5-year period prospective study. Clinical follow-up assessments were performed after birth. Read More

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Functional and morphological changes in hypoplasic posterior fossa.

Childs Nerv Syst 2021 10 25;37(10):3093-3104. Epub 2021 Jun 25.

Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Background: The knowledge of the development and the anatomy of the posterior cranial fossa (PCF) is crucial to define the occurrence and the prognosis of diseases where the surface and/or the volume of PCF is reduced, as several forms of craniosynostosis or Chiari type I malformation (CIM). To understand the functional and morphological changes resulting from such a hypoplasia is mandatory for their correct management. The purpose of this article is to review the pertinent literature to provide an update on this topic. Read More

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October 2021

Real-time ultrasound-guided epidural anesthesia for cesarean section in a parturient with achondroplasia.

J Int Med Res 2021 Jun;49(6):3000605211023701

Department of Anesthesiology and Pain Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Achondroplasia is a type of disproportionate dwarfism with short limbs and a normal-sized torso. This condition results in a potential spinal abnormality and a difficult airway may increase the anesthetic risk, not only in neuraxial anesthesia, but also in general anesthesia. We report a 25-year-old primigravida with achondroplasia who underwent cesarean section under epidural anesthesia with the assistance of real-time ultrasound guidance. Read More

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Natural history of the cervical high-intensity intramedullary lesion in achondroplasia.

Spinal Cord Ser Cases 2021 05 27;7(1):46. Epub 2021 May 27.

Department of Radiology, Royal National Orthopaedic Hospital, Stanmore, UK.

Study Design: Retrospective cohort study.

Objective: The cervical high-intensity intramedullary (CHII) lesion is a recognised finding in achondroplasia, manifesting as a focal area of increased T2W signal intensity in the upper cervical cord in the absence of cervical cord compression. The aim of this study is to determine the natural history of this abnormality. Read More

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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.

Genet Med 2021 08 18;23(8):1498-1505. Epub 2021 May 18.

Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.

Purpose: Achondroplasia is the most common short stature skeletal dysplasia (1:20,000-30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospective natural history study was conducted to understand medical and surgical practices in achondroplasia.

Methods: Data from patients with achondroplasia evaluated by clinical geneticists at Johns Hopkins University, A. Read More

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High-resolution computed tomography temporal bone imaging in achondroplasia.

Proc (Bayl Univ Med Cent) 2021 Jan 28;34(3):419-421. Epub 2021 Jan 28.

Department of Radiology, Yale New Haven Health Bridgeport Hospital, Bridgeport, Connecticut.

Achondroplasia is a genetic condition caused by disordered endochondral ossification, which leads to rhizomelic dwarfism and midfacial hypoplasia. Additionally, several morphologic changes in the temporal bone are thought to at least partially contribute to hearing loss in these patients. We present a patient with achondroplasia who presented with hearing loss and was referred to radiology for temporal bone imaging. Read More

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January 2021

Pictorial review: imaging of the spinal manifestations of achondroplasia.

Br J Radiol 2021 Jul 29;94(1123):20210223. Epub 2021 Apr 29.

Royal National Orthopaedic Hospital NHS Trust, London, UK.

Achondroplasia is the commonest hereditary skeletal dysplasia exhibiting dwarfism with characteristic rhizomelic (proximal) shortening of the limbs. It is predominantly linked with an autosomal dominant inheritance, but sporadic mutations can occur which are associated with advanced maternal age. Approximately 1 in every 25 000-30 000 live births are affected, and the overall life expectancy is marginally reduced by ~10 years. Read More

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Achondroplasia from the viewpoint of orthodontics

Orv Hetil 2021 04 10;162(17):683-688. Epub 2021 Apr 10.

3 Heim Pál Országos Gyermekgyógyászati Intézet, Alvásdiagnosztikai és Terápiás Labor, Budapest.

Összefoglaló. Az achondroplasia kialakulásáért az FGFR3-gén mutációja tehető felelőssé, mely a porc növekedési lemezében található chondrocyták érésében okoz zavart. Az esetbemutatásban szereplő lánygyermeknél a születést követő első hónapban a klinikai, laboratóriumi és röntgenvizsgálatok alapján achondroplasia igazolódott. Read More

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Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.

Childs Nerv Syst 2021 12 29;37(12):3907-3911. Epub 2021 Mar 29.

Department of Neurosurgery, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, Gifu, 501-1194, Japan.

Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely performed in these patients. Here, we report the case of an 18-month-old boy with achondroplasia and progressive hydrocephalus who underwent ETV. Read More

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December 2021

Spine radiograph in dysplasias: A pictorial essay.

Indian J Radiol Imaging 2020 Oct-Dec;30(4):436-447. Epub 2021 Jan 13.

Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as a part of the complete skeletal survey. Read More

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January 2021

Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.

Orphanet J Rare Dis 2021 02 12;16(1):81. Epub 2021 Feb 12.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, 03080, Seoul, Republic of Korea.

Background: Cervical myelopathy and hydrocephalus occasionally occur in young children with achondroplasia. However, these conditions are not evaluated in a timely manner in many cases. The current study presents significant predictors for cervical myelopathy and hydrocephalus in young children with achondroplasia. Read More

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February 2021