Diseases Of Bone Flashcards
Osteogenesis Imperfecta is also called ?
Lobstein’s disease
Brittle bone disease
Lobstein’s disease aka
Osteogenesis Imperfecta
Brittle bone disease
Gene mutation responsible for Osteogenesis Imperfecta
Type 1 collagen genes :
COL1A1
COL1A2
Also : CRTAP, LEPRE 1 , PPIB
Fetal collagen
Type 1 collagen in Osteogenesis Imperfecta that does not undergo maturation
Osteogenesis Imperfecta classification given by
Sillence
Genetic nature of Type 1 Osteogenesis Imperfecta
Autosomal Dominant
BRUCK Syndrome
Infantile Osteogenesis Imperfecta (since birth)
Blue sclera seen in.
OSTEOGENESIS IMPERFECTA.
OPALESCENT TEETH seen in
OSTEOGENESIS IMPERFECTA.
In skull: Wormian or Sutural bones seen in
Osteogenesis imperfecta.
Pulp obliteration seen
Osteogenesis imperfecta.
and
Dentigerous Imperfecta
OSTEOPETROSIS aka
MARBLE BONE DISEASE
ALBER SCHONBERG DISEASE
ALBER SCHONBERG DISEASE aka
MARBLE BONE DISEASE
OSTEOPETROSIS
MARBLE BONE DISEASE aka
OSTEOPETROSIS
ALBER SCHONBERG DISEASE
CLEDO CRANIAL DYSPLASIA aka
Marie- Sainton’s disease.
Marie- Sainton’s disease. Also
CLEDO CRANIAL DYSPLASIA
Gene responsible for CLEDO CRANIAL DYSPLASIA
CBFA1 or RUNX2
Arnold Head apperance seen in
CLEDO CRANIAL DYSPLASIA
IDIOPATHIC
OSTEO SCLEROSIS aka.
- Dense bone Island
- Bone eburnation
- Bone whorl
- Bone scar
- enostosis
Blue sclera not seen in which type of osteogenesis imperfecta ?
Type 4 osteogenesis imperfecta
