Trident Hand: Achondroplasia
نویسندگان
چکیده
منابع مشابه
Achondroplasia.
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous...
متن کاملA Trident Scholar Project Report
........................................................................................................1 Acknowledgements............................................................................................2 Introduction.....................................................................................................3 Methods..............................................................
متن کاملClinical management of achondroplasia.
Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...
متن کاملAnaesthetic management of achondroplasia.
We report a patient with achondroplasia who presented for emergency Caesarean section. Endotracheal intubation was not difficult. The reaction of this patient to drugs such as thiopentone and tubocurarine, judged on body weight basis, was normal.
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ژورنال
عنوان ژورنال: Journal of Endocrinology and Thyroid Research
سال: 2020
ISSN: 2573-2188
DOI: 10.19080/jetr.2020.05.555672