Medical complications in Australian children with achondroplasia [PDF]
, 2021 This thesis builds on the currently available literature on medical complications in achondroplasia, the most common skeletal dysplasia causing short stature in humans.
Jennifer Armstrong (5499434)
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Achondroplasia and enchondromatosis: report of three boys. [PDF]
, 2007 We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals.
Numakura, C +5 more
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Achondroplasia Associated with Bilateral Keratoconus [PDF]
, 2012 We report a rare case of bilateral keratoconus in association with achondroplasia. A 26-year-old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years.
Ghada Y. Al Bin Ali +3 more
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Achondroplasia: Etiology, Clinical Presentation, and Management [PDF]
, 2017 By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history
Daugherty, Allyson, Allyson Daugherty
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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia [PDF]
Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition.
AlSayed, Moeenaldeen +18 more
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Optimal management of complications associated with achondroplasia [PDF]
, 2014 Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact ...
Pacey, Verity +11 more
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Case of twin achondroplasia and autism coexistence and literature review [PDF]
, 2023 Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and ...
Uzun, Necati +5 more
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Glioblastoma multiforme mimicking falx meningioma with achondroplasia: Case report [PDF]
, 2014 Achondroplasia is a type of genetic dwarfism with an undefined cause. There are no reports of glioblastoma multiforme mimicking a falx meningioma alongside achondroplasia in the literature.
Şengöz, Ahmet +4 more
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Makna Tubuh bagi Penyandang ACHONDROPLASIA [PDF]
, 2020 Penelitian ini bertujuan untuk mendeskripsikan gambaran tentang; (1) pengalaman dan peristiwa yang dialami oleh penyandang Achondroplasia, (2) perasaan terkait peristiwa yang dialami, (3) gambaran keinginan terhadap hidup, (4) pemaknaan tubuh mini bagi ...
AZIZATUR ROFIQIYAH, HIFNI, WAHYUDI, ARI
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Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures [PDF]
, 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 ...
Lee, Jong Seok +5 more
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