I am a health visitor in Fife with a child on my caseload with diastrophic
At first it was assumed Tanyalee, who has Diastrophic
Dwarfism, wouldn't survive infancy, or go on to have a normal adult life.
The differential diagnosis for this radiographic appearance in the context of the clinical findings includes achondroplasia, MED, spondyloepiphyseal dysplasia congenita, diastrophic
dwarfism, and metatrophic dwarfism.
dysplasia sulfate transporter deficiency
Lethal and nonlethal diastrophic
dysplasia: a study of 14 Swedish cases.
Prado) portrays a court secretary suffering from diastrophic
dysplasia also called proportionate dwarfism.
Deficient sulfation of cartilage proteoglycans has been demonstrated in ACG-IB and has been related to a sulfate uptake defect caused by mutations in the diastrophic
dysplasia sulfate transporter gene.
Finnish team used a new analytical technique called fine-structure linkage disequilibrium mapping to determine the cause of diastrophic
James and his older brother Phil have Diastrophic
Dysplasia but have not let the condition hold them back, helped by parents Dawn, a teaching assistant, and Dave.
A rare genetic condition called Diastrophic
Dysplasia caused James's dwarfism - both his parents are of average height.
James, 23, from Rhos on Sea, near Colwyn Bay, was born with a condition called Diastrophic
Fe gafodd James a'i frawd mawr Philip eu geni gyda chyflwr o'r enw Diastrophic
Dysplasia, sef math o Gorachedd sy'n anghyffredin iawn.
The 25-year-old uses a power wheelchair to get around, needs assistance with all everyday tasks and has to take daily medication to cope with diastrophic
Michael inherited the rare disorder diastrophic
dysplasia, which meant he would never grow beyond his present height.
The dwarf twin from the set Hall studied has diastrophic
dysplasia, a genetic disorder thought to result from mutations on chromosome 5.