Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
Oman Journal of Ophthalmology, 2023 Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3.
H Kishore
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Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]
, 2020 Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan +6 more
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Current Care and Investigational Therapies in Achondroplasia. [PDF]
, 2017 The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Bonafé, L., Gouze, E., Unger, S.
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Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association [PDF]
, 2012 Background: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized.
Barroso, Eva +5 more
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The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
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Achondroplasia: Craniofacial manifestations and considerations in dental management
Saudi Dental Journal, 2010 Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of dental interest because of its characteristic craniofacial features which include ...
Afnan Al-Saleem, Asma Al-Jobair
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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
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The Minimally Invasive Plate Osteosynthesis (MIPO) Technique with a Locking Compression Plate for Femoral Lengthening [PDF]
, 2008 A minimally invasive plate osteosynthesis technique using a locking compression plate (LCP) has been used widely in trauma cases. Its advantages are that the MIPO technique does not interfere with the fracture site and thus provides improved biological ...
Asaumi, Koji +6 more
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, 2018 Children with achondroplasia, the most common cause of short stature, pose several challenges for the anesthesiologists who care for them. Although a rare condition, individuals affected with achondroplasia have a normal life span and frequently present to the operating room for much needed otolaryngologic, neurosurgical, and orthopedic procedures. The
Trevor Whitwell, Antonio Gonzalez Fiol
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Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +2 more sources