ex 1 Flashcards
developmental anomalies due to problems with mesenchyme
dystoses
dystoses deals with mutations in ______genes
homeobox
mutations that deal with bone or cartilage formation
Dysplasia
this disorder is due to defective synthesis of type I collagen
osteogenesis imperfecta (brittle bone)
mutations in FGFR3
achondroplasia
most cases of achondroplasia are (autosomal dominant or spontaneous)
spontaneous
short stature, shortening of proximal extremities, frontal bossing
achondroplasia
blue sclera occurs in
osteogenesis imperfecta
thanatophoric dwarfism is due to
missense or point mutations
brown tumor occurs in
hyperparathyroidism
absent or incomplete development, supernumerary digits, abnormal fusion of bone
dysostosis
Most common congenital malformation of the limbs
syndactyly
bullet vertebrae occur in
achondroplasia
80% of paget cases involve_______
the axial skeleton or femur
most common age paget disease is diagnosed at
70