achondroplasia


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  • noun

Synonyms for achondroplasia

References in periodicals archive ?
There are several reports of pregnant women with Achondroplasia undergoing caesarian section successfully under GA.
FolloWing three families Who each have to deal With the effects of achondroplasia, it gives us an honest glimpse into life With the limiting condition.
Conclusions: Conductive anesthesia is an option in C-section in patients with achondroplasia.
Achondroplasia [MIM: 100800] is the most frequent form of short-limb dwarfism.
The Division of Human Genetics (National Health Laboratory Service (NHLS) and University of the Witwatersrand) recently hosted the second annual Achondroplasia Day, held at the Rahima Moosa Hospital in Johannesburg.
Simmonds, who has achondroplasia (dwarfism), said: "I know it's going to be hard.
We believe that additional manufacturing capabilities beyond our current resources will be needed to support anticipated peak sales for GALNS, PEG-PAL for PKU, BMN 701 for Pompe disease, BMN 111 for achondroplasia, if they continue to progress to approval, and our other preclinical programs.
1) It was reported that hypochondroplasia, achondroplasia and thanatophoric dysplasia are the different types of mutation in FGFR3 with hypochondroplasia being the mildest and TD, the most severe form.
Diseases include chondrosarcomas, metastatic carcinoma to bone, bone cysts, lipomas, achondroplasia, the Ehlers-Danos syndromes, Marfan syndrome, osteosclerotic disorders, Hunter's disease, clinical gout and hyperuricemia, and hypoparathyroidism.
Common mutation in the FGFR3 gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
What made this even more remarkable was that Frances had to miss a lot of lessons whilst she received treatment for achondroplasia - a type of bone growth disorder.
Kirsty, 34, and her sons, aged five, all have achondroplasia, a genetic disorder which has stopped their arms and legs growing in proportion to the rest of their bodies.
These mutations have been linked to rare developmental diseases such as achondroplasia and Costello syndrome.
Simmonds, who was born with achondroplasia, or dwarfism, has continued to excel in 2009, clocking world records at the British Championships and in the Paralympic World Cup.
Richard's size is down to a gene mutation at conception that causes achondroplasia.