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Novel therapeutic approaches for the treatment of achondroplasia
Bone, 2020 International audienceAchondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with the identification of the fibroblast growth factor receptor 3 (FGFR3) as the causative gene.
Laurence Legeai-Mallet +1 more
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Pediatrics In Review, 2019
This chapter reviews the incidence, recurrence risk, and etiology of achondroplasia, the most common skeletal dysplasia. This may be suspected by US in the late second trimester. The clinical features at birth are characteristic with macrocephaly, rhizomelic shortening and a trident hand. Radiographs can confirm the diagnosis. Molecular testing may not
Robin D. Clark, Cynthia J. Curry
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This chapter reviews the incidence, recurrence risk, and etiology of achondroplasia, the most common skeletal dysplasia. This may be suspected by US in the late second trimester. The clinical features at birth are characteristic with macrocephaly, rhizomelic shortening and a trident hand. Radiographs can confirm the diagnosis. Molecular testing may not
Robin D. Clark, Cynthia J. Curry
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, 2023 Tato bakalářská práce se věnuje genetickému onemocnění zvaném achondroplázie, historii jeho objevování, genetickému podkladu, klinickým projevům a diagnostice nemoci. V poslední kapitole je uvedeno léčivo pro achondroplázii a další návrhy na léčbu tohoto
Kolisková, Lucie
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The Journal of Bone and Joint Surgery. British volume, 1981
A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus.
P, Beighton, C A, Bathfield
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A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus.
P, Beighton, C A, Bathfield
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Hydrocephalus in achondroplasia
Neurosurgery, 1980The relationship of achondroplasia and hydrocephalus has long been the subject of debate. The authors present two patients with these conditions who responded dramatically to shunting procedures. Diagnostic studies implicated venous outflow obstruction in the pathogenesis of their disease.
W A, Friedman, J P, Mickle
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American Journal of Medical Genetics, 1988
AbstractObesity is a significant and potentially serious health problem in achondroplasia. Body mass indices, weight‐to‐square of the height ratio (W/H2), and triceps skinfold measurements show that obesity is common. It begins in early childhood and is prevalent at all ages.
Jacqueline T. Hecht +7 more
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AbstractObesity is a significant and potentially serious health problem in achondroplasia. Body mass indices, weight‐to‐square of the height ratio (W/H2), and triceps skinfold measurements show that obesity is common. It begins in early childhood and is prevalent at all ages.
Jacqueline T. Hecht +7 more
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The Psychodynamics of Achondroplasia
1988From the psychological-social point of view, achondroplasia is a complex disorder; in fact, one must take into consideration aspects of the body image, family-surroundings reaction and possible corrective therapy. The achondroplast has a physical image that coincides with his personality and from this standpoint it does not appear to be problematic in ...
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1988
The genetic characteristics of achondroplasia can be summarized as follows: 1. It is a common disorder ranging in prevalence from 2.5 to 5 per 100,000; in Italy, Camera and Mastroiacovo (7) documented a prevalence of 1/28,000 live- and stillborn children; the best estimate of prevalence after correcting for under-ascertainment was 1/22,500.
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The genetic characteristics of achondroplasia can be summarized as follows: 1. It is a common disorder ranging in prevalence from 2.5 to 5 per 100,000; in Italy, Camera and Mastroiacovo (7) documented a prevalence of 1/28,000 live- and stillborn children; the best estimate of prevalence after correcting for under-ascertainment was 1/22,500.
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1988
The growth disorder in achondroplasia results from abnormalities of endochondral bone formation. Cranial abnormalities originate from the occipital bone, the only region where enchondral bone is formed.
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The growth disorder in achondroplasia results from abnormalities of endochondral bone formation. Cranial abnormalities originate from the occipital bone, the only region where enchondral bone is formed.
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