II Flashcards
aka brittle bone disease
Osteogenesis Imperfecta (Ol)
mutations in structural genes that encode alpha 1 and alpha 2 peptides of type 1 collagen
Osteogenesis Imperfecta (Ol)
- present at birth, may lead to
deformity of bones and death
Ol congenita
— starts at some years after birth, fx generally stop a adulthood
Ol tarda
is an inherited (genetic) bone disorder that is present at birth.
Osteogenesis imperfecta
A child born with this disease may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. What kind of disease is this?
Osteogenesis Imperfecta (OI)
bone deformity and dwarfism
Achondroplasia
most common inherited disorder
Achondroplasia
autosomal dominant gene at 4p chromosome (FGFR3 gene)
Achondroplasia
aka marble bone, stone bone
Osteopetrosis
CLCN7 gene
Osteopetrosis
- increase in bone density
and defective bone contour, bones are heavy but brittle - requires increased radiographic technique
Osteopetrosis
failure of fingers and toes to separate
Syndactyly
extra digits
Polydactyly
also known as hyperdactyly, is the most common congenital anomaly of hand and foot.
Polydactyly
It is characterized by an extra finger or toe that may results from defective development during anterior-posterior patterning of developing limb.
Polydactyly
-aka talipes
- Incidence: more common in males than
females
- Treatment: corrected with casting and splinting
Club foot
- abnormal lateral curvature of spine; generally not apparent until adolescence
- Importance of Radiography
Scoliosis
usually LS junction or cervical ribs at C7
Transitional Vertebra
- incomplete closure of vertebral canal
- common in LS area
Spina Bifida