Glioblastoma multiforme mimicking falx meningioma with achondroplasia: Case report
, 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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Achondroplasia and Down's syndrome – case report of a rare association [PDF]
, 2011 The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that ...
T. Silva +5 more
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Coping and quality of life of parents of children with achondroplasia—a narrative review
Frontiers in MedicineBackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and ...
Adekunle Adedeji +11 more
doaj +1 more source
Medical complications in Australian children with achondroplasia
, 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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Makna Tubuh bagi Penyandang ACHONDROPLASIA
, 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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Development Of Food Guide Pyramid For Individuals With Achondroplasia [PDF]
, 2012 AN ABSTRACT OF THE THESIS OF KATHRYN E. LAMB, for the Master of Science degree in Food and Nutrition, presented on Tuesday, November 22, 2011, at Southern Illinois University Carbondale TITLE: DEVELOPMENT OF FOOD GUIDE PYRAMID FOR INDIVIDUALS WITH ...
Lamb, Kathryn Elizabeth
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Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
American Journal of Perinatology Reports, 2017 Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during
Kimberly E. Fagen +3 more
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Unilateral Frontosphenoidal Craniosynostosis with Achondroplasia: A Case Report
, 2011 Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia.
Jerome L. Gorski +2 more
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Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association
Endocrinology, Diabetes & Metabolism Case Reports, 2018 A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX ...
Yang Timothy Du, Angus Rutter, Jui Ho
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Sleep and upper airway obstruction in children with achondroplasia
, 1996 Objective: The features of achondroplasia, the most common form of dwarfism, includes short cranial base and midface hypoplasia; both abnormalities increased the risk of upper airway obstruction during sleep, The aim of our study was to evaluate sleep ...
V. Castronovo +13 more
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