Results 11 to 20 of about 6,199 (168)

The Norwegian Adult Achondroplasia Study: A population-based study of medical complications, physical functioning, cardiovascular risk factors, and body composition in adults with achondroplasia [PDF]

, 2022
While medical complications are well described in children with achondroplasia, our scoping review found few studies concerning adults. The Norwegian Adult Achondroplasia Study included 50 Norwegian adults, aged 16–87 years, with genetically confirmed ...
Fredwall, Svein Otto
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The first European consensus on principles of management for achondroplasia [PDF]

, 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
Encarna Guillen-Navarro, Mohamad Maghnie, Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Sérgio Bernardo de Sousa, Maghnie, Mohamad, Tawfeg Ben-Omran, Cormier-Daire V., Mohnike, Klaus, Svein O. Fredwall, de Sousa S. B., Irving, Melita, Moeenaldeen AlSayed, Zagorka Peijin, Mortier, Geert, Guillen-Navarro, Encarna, de Sousa, Sergio Bernardo, Valerie Cormier-Daire, Boero S., Ben-Omran, Tawfeg, Silvio Boero, Mortier G., Guillen-Navarro E., Irving M., Mohnike K., Fredwall S. O., Ben-Omran T., Christian Lampe, Boero, Silvio, Lampe C., Geert Mortier, Peijin, Zagorka, Melita Irving, Fredwall, Svein O., AlSayed M., Peijin Z., Sousa, Sérgio Bernardo de, Maghnie M., Klaus Mohnike, Lampe, Christian, Sousa, Sérgio Bernardo   +40 more
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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations [PDF]

, 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
Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Encarna Guillen-Navarro, Mohamad Maghnie, Maghnie, Mohamad, Sousa, Sérgio B, Tawfeg Ben-Omran, Mohnike, Klaus, Irving, Melita, Bengoa, Joana, Mortier, Geert, Moeenaldeen AlSayed, Guillen-Navarro, Encarna, Sérgio B. Sousa, Valerie Cormier-Daire, Ben-Omran, Tawfeg, Silvio Boero, Svein Fredwall, Sousa, Sérgio B., Inês Alves, Joana Bengoa, Garel, Catherine, Catherine Garel, Alves, Inês, Boero, Silvio, Christian Lampe, Fredwall, Svein, Geert Mortier, Melita Irving, Klaus Mohnike, Lampe, Christian   +30 more
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Postural control in adults with Achondroplasia [PDF]

, 2023
Achondroplasia is a genetic rare condition characterized by shorter stature and disproportionate upper and lower limbs length. There is limited evidence on postural control in adults with achondroplasia and on how limb lengthening interacts with body ...
Maria António Castro, Sofia Tavares, Orlando Fernandes, Inês Alves   +3 more
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Achondroplasia Berulang pada Orangtua dengan Perawakan Normal: Laporan Kasus [PDF]

, 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.
Pribadi, Adhi, Zahra, Fatima
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Hearing loss in Norwegian adults with achondroplasia [PDF]

, 2021
Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy.
Savarirayan, Ravi, Ravi Savarirayan, Jorunn Solheim, Hanne Berdal, Åberg, B, Svein O. Fredwall, Björn Åberg, Savarirayan, R, Solheim, J, Fredwall, Svein O., Åberg, Björn, Berdal, H, Berdal, Hanne, Fredwall, SO, Solheim, Jorunn   +14 more
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Neuroimaging and calvarial findings in achondroplasia [PDF]

, 2020
Achondroplasia is the most common hereditary form of dwarfism and is characterized by short stature, macrocephaly and various skeletal abnormalities. The phenotypic changes are mainly related to the inhibition of endochondral bone growth.
Sarioglu, FATMA CEREN, Güleryüz Uçar, Handan, Sarioglu, Orkun   +2 more
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Cardiovascular risk factors and body composition in adults with achondroplasia [PDF]

, 2021
Purpose An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia.
Ravi Savarirayan, Manum, Grethe,, Serena Tonstad, Lidal, Ingeborg Beate,, Eggesbo, Heidi Beate,, Olof Dahlqvist Leinhard, Harald Weedon-Fekjær, Svein O. Fredwall, Weedon-Fekjaer, Harald,, Dahlqvist Leinhard, Olof,, Lisa Kjønigsen, Grethe Månum, Fredwall, Svein O.,, Ingeborg Beate Lidal, Tonstad, Serena,, Jennifer Linge, Kjonigsen, Lisa,, Linge, Jennifer,, Savarirayan, Ravi,, Heidi Beate Eggesbø   +19 more
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Orofacial manifestations of achondroplasia [PDF]

, 2012
Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening.
Tanwar, Renu, Kaushik, Atul, Kumar, Munish, Vinod, V.C., Rohilla, Smriti   +4 more
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Diagnosis of Achondroplasia at Birth: A Case Report [PDF]

, 2020
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal, Uttara Gautam, Robin Choudhary, Sunil Raja Manandhar, Rajan Phuyal, Aliska Niroula   +5 more
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