Results 11 to 20 of about 10,063 (203)
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 +14 more
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Pediatrics In Review, 2019 This chapter reviews the incidence, recurrence risk, and etiology of achondroplasia, the most common skeletal dysplasia. This may be suspected by US in the late second trimester. The clinical features at birth are characteristic with macrocephaly, rhizomelic shortening and a trident hand. Radiographs can confirm the diagnosis. Molecular testing may not
Robin D. Clark, Cynthia J. Curry
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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 +12 more
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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 +6 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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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 +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 +4 more
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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 +5 more
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, 2020 If we were to write down all those things that we ordinarily categorise as disabilities, the resulting list might appear to be extremely heterogeneous. What do disabilities have in common?
Gregory, Alex
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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 +4 more
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