Results 1 to 10 of about 5,366 (132)

Achondroplasia Berulang pada Orangtua dengan Perawakan Normal: Laporan Kasus

Obgynia, 2023
Achondroplasia adalah penyebab paling umum dari perawakan pendek yang tidak proporsional. Individu yang terkena memiliki pemendekan rhizomelia pada anggota badan, makrosefali, dan fitur wajah yang khas.
Fatima Zahra, Adhi Pribadi
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Left Main Coronary Artery Bifurcation Coronary Intervention in a Patient with Achondroplasia with Multivessel Coronary Artery Disease

Indian Journal of Medical Specialities, 2022
We report a rare case of critical coronary artery disease in a 62-year-old male with achondroplasia. There is a paucity of case reports of association of achondroplasia with coronary artery disease.
Debasish Das, Anindya Banerjee, Abhinav Kumar, Tutan Das, Shashikant Singh, Jaideep Das Gupta, Manaranjan Dixit   +6 more
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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The ...
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike   +14 more
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Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia [PDF]

Zhongguo quanke yixue, 2023
Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb ...
SUN Wenwen, LIU Jing, KONG Dexian, ZHANG Zhimin, MA Huijuan
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The first European consensus on principles of management for achondroplasia

Orphanet Journal of Rare Diseases, 2021
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike   +12 more
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Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and
Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi   +5 more
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Total Joint Arthroplasty in Patients With Achondroplasia: Comparison of 90-Day Adverse Events and 5-Year Implant Survival

Arthroplasty Today, 2021
Background: Achondroplasia is the most common skeletal dysplasia, and total joint arthroplasty of the hip and/or knee in this patient population may present unique challenges. Methods: All patients undergoing primary total hip or total knee arthroplasty (
Harold G. Moore, BS, Christopher A. Schneble, MD, Joseph B. Kahan, MD, MPH, Gregory G. Polkowski, MD, MSc, Lee E. Rubin, MD, Jonathan N. Grauer, MD   +5 more
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Achondroplasia and its oral manifestations

Journal of Primary Care Dentistry and Oral Health, 2023
Achondroplasia is the most common type of skeletal dysplasia that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in dentistry because of its typical craniofacial manifestations.
P N Nanmaran, Topi Nyodu, Anisha Bag, Subir Sarkar, Somen Roychowdhury   +4 more
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Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report

BMC Medical Genomics, 2023
Background Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000–30,000 newborns, which is an autosomal dominant inheritance disease.
Shujun Chen, Hongmei Dong, Yong Luo, Yingpin Zhang, Pan Li   +4 more
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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

BMC Pediatrics, 2022
Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression ...
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela   +17 more
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