Genetic HL w/ Musculoskeletal Disorders Flashcards
What is dysostosis
disorder of the development of bone, in particular affecting ossification
what is the inheritance of crouzon’s syndrome
AD
what are the clinical features of crouzons
early fusion of cranial bones
conductive or mixed HL
bulging eye/vision problems
looks like down’s
Crouzon
why do they have the physical features in Crouzon? what is the etiology?
cranial bones fuse earlier than they should (fontanels) will not find them in these babies
majority have no intellectual disabilities
what is the inheritance of stickler syndrome
AD w/ variable expressivity
what is stickler syndrome
collagen disorder
all mutations involve premature stop codons (nonsense mutations)
clinical features of stickler syndrome
distinctive facial appearance, eye abnormalities, HL and joint problems
what is achondroplasia
form of short-limbed dwarfism
both parents carry the dominant gene in achondroplasia and pass it to the offspring
lethal to the offspring
cases of achondroplasia increase with ____ age
paternal
what does the mutation in achondroplasia cause
The mutation causes problems in converting cartilage to bone (ossification), particularly in the long bones of the arms and legs
what is the inheritance of Osteogenesis Imperfecta
AD
what is the characteristic of OI
bone fragility
multiple bone fractures
blue sclerae
conductive or mixed HL
what is the differential diagnosis for otosclerosis
osteogenesis imperfecta
