منابع مشابه
A Case of Cœliac Disease
.? ?J in w"lch there is, amongst other things, ^crease of fat m the stools. In this case there were mr.,-/ ^mptoms suggestive of cceliac disease, but a ^?or?ugh investigation, including chemica] animation of the stools, would have to be carried out to establish the diagnosis. A condition similar to the one described is not common in children in India; this condition responds well to a fat-free ...
متن کاملAchondroplasia.
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 کاملPolycystic kidney disease in a patient with achondroplasia: case report.
Autosomal dominant polycystic kidney disease is a multisystem disease involving many organs. An association with other diseases such as tuberous sclerosis, von Hippel-Lindau disease and Marfan syndrome have been previously described. We describe a 35 year old female with achondroplasia who developed polycystic kidney disease involving both kidneys and progressing to end-stage renal disease. To ...
متن کاملThe metabolism of healing in cœliac rickets.
As long ago as 1908 it was reported' that in intestinal infantilism there was serious derangement of the mineral metabolism. A number of investigations of the calcium anid phosphorus metabolism of patients with fatty diarrhoea, both adults and children, have been made at intervals since that time. It has been consistently found that the serum calcium tended to be low, and the serum inorganic ph...
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...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1933
ISSN: 0035-9157
DOI: 10.1177/003591573302601033