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Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans.
Использование термина achondroplasia на английском
1
Dian Penny has achondroplasia, which is the most common type of dwarfism.
2
Penny and Arthur then conceived another baby, Michael, who also had achondroplasia.
3
There are still, however, unknown aspects of the diagnosis and treatment of achondroplasia.
4
Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia.
5
In this paper, a possible case of achondroplasia is presented.
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This manuscript demonstrates an appropriate methodology for identifying achondroplasia from the cranial skeleton alone.
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A person with achondroplasia has one dwarfism gene and one "average-size" gene.
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Background: This report describes the sixth case of an unusual association: Down syndrome with achondroplasia.
9
His appearance also suggested a diagnosis of achondroplasia.
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Conclusions: This review provides a historical perspective on the evolution of treatment of pediatric patients with achondroplasia.
11
Simmonds, who has a form of dwarfism called achondroplasia, was again cheered home by a raucous crowd.
12
Thomson reports three living cases of achondroplasia.
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This review will summarize advances in research on and the clinical diagnosis and treatment of achondroplasia in China.
14
She'd just joined the genetics department and I think we were the first couple she had met with achondroplasia.
15
Accordingly, the authors have reviewed the experience of neurosurgery in children with achondroplasia at The Hospital for Sick Children.
16
A colleague heard of a baby with achondroplasia, bright as a button, whom the adoption services were struggling to place.