definitions Flashcards
What is skeletal dysplasia?
A generalised developmental disorder of bone and cartilage which produces skull, spine and limb abnormalities
What is Rhizomelic?
Proximal short limb segment
What is Mesomelic?
Middle short limb segment
What is Acromelic?
Distal short limb segment
What is Camptylodactyly?
Congenital digital fixed flexion deformity
What is Clindodacytyl?
Congenital digital inclination deformity
What is brachydacytyl?
Congenital digital shortening
What is Syndactyly?
Congenital digital fusion
What is Arachnodactyly?
Spider finger MC index height/width > 8.4
What is polydacytly?
Congenital digital duplication
What is osteogenesis imperfecta?
A skeletal dysplasia with abnormal bone density colloquially called brittle bone disease
What is Genotype?
Genetic profile of an individual
What is phenotype?
Physical manifestation of a particular genotype
What is Juvenile Idiopathic arthritis ?
A child <16 yrs old with persistent arthritis in one or more joints for greater than 3 months after the exclusion of the differential dx ( infection, malignancy, blood dyscrasias, psoriatic arthropathy, ankylosing spondylitis)
What is osteomalacia/ rickets?
A skeletal disease in which there is inadequate mineralisation of bone.There is Qualitative not quantitative bone loss