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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
Published 2022-07-01Subjects: “…Achondroplasia…”
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2
Achondroplasia Associated with Bilateral Keratoconus
Published 2012-01-01“…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. …”
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3
Sagittal balance parameters in achondroplasia
Published 2023-01-01Subjects: “…Achondroplasia…”
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4
Achondroplasia and its oral manifestations
Published 2023-01-01Subjects: “…achondroplasia…”
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5
Concomitant achondroplasia and developmental dysplasia of the hip
Published 2015-12-01Subjects: “…Achondroplasia…”
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6
Natural history of 39 patients with Achondroplasia
Published 2018-07-01Subjects: “…Achondroplasia…”
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7
Thoracolumbar kyphosis in achondroplasia: literature review
Published 2021-03-01Subjects: “…achondroplasia…”
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8
Growth Charts for Egyptian Children with Achondroplasia
Published 2019-05-01Subjects: “…achondroplasia children…”
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9
The first drug for the treatment of children with achondroplasia
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10
Optimal management of complications associated with achondroplasia
Published 2014-06-01“…The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper examines the general literature and research evidence on the medical and health aspects of individuals with achondroplasia and presents a pictorial model of achondroplasia based on The International Classification of Functioning, Disability, and Health (ICF). …”
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11
Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia
Published 2023-10-01Subjects: Get full text
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12
Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia
Published 2021-06-01Subjects: “…achondroplasia…”
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Achondroplasia: a comprehensive clinical review
Published 2019-01-01Subjects: “…Achondroplasia…”
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14
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
Published 2024-09-01Subjects: “…Achondroplasia…”
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15
COURSE OF PREGNANCY AND CHILDBIRTH OF A WOMAN WITH ACHONDROPLASIA
Published 2017-06-01Subjects: Get full text
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Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
Published 2015-01-01“…Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. …”
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Unveiling the Chaos in Postural Control in Adults with Achondroplasia
Published 2024-02-01“…Background: Achondroplasia is a rare genetic skeletal condition characterized by disproportionate short stature. …”
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Diagnosis of Achondroplasia at Birth: A Case Report
Published 2020-02-01Subjects: “…achondroplasia; dwarfism; ultrasonography…”
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Optimising care and follow-up of adults with achondroplasia
Published 2022-08-01Subjects: “…Achondroplasia…”
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20
Achondroplasia: Craniofacial manifestations and considerations in dental management
Published 2010-10-01“…Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. …”
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