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)
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
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
Scoliosis
usually LS junction or cervical ribs at C7
Transitional Vertebra
Spina Bifida
early closure of cranial sutures
Craniosynostosis
Anencephaly
infection of bone or bone marrow
Osteomyelitis
Hematogenesis