congenital disorders (paeds) Flashcards
what is osteogenesis imperfecta? what is it also known as
brittle bone disease
defect in the maturation and organisation of type 1 collagen
describe the bone found in osteogenesis imperfecta
thin (gracile) with thin cortices and osteopenic
what is the inheritance pattern of osteogenesis imperfecta
autosomal dominant
what are the symptoms of osteogenesis imperfecta
multiple fractures in childhood (often mistaken for abuse) short stature with multiple deformities blue sclera loss of hearing spinal deformities (scoliosis)
what is skeletal dysplasia
medical term for short stature
whats the most common type of skeletal dysplasia
achondroplasia
what are the symptoms of achondroplasia
lax joints normal mental development disproportionately short limbs prominent forehead widened nose
what is generalised/familial joint laxity
hyper mobility of the joints
what causes Marfan’s syndrome
mutation of fibrin gene
what is the inheritance pattern of Marfan’s
autosomal dominant or sporadic
what are the symptoms of Marfan’s
tall with disproportionately long limbs ligament laxity high arched palate scoliosis flattening of the chest (pectum excavatum) eye problems aortic aneurysm cardiac valve incompetence
what is Ehlers-Dalos syndrome
abnormal elastin and collagen formation
what is the pattern of inheritance in Ehlers-Dalos syndrome
autosomal dominant
what are the symptoms of Ehlers-Dalos syndrome
profound joint hyper mobility
vascular fragility with easy brushing
joint instability
scoliosis
what is Duchenne Muscular Dystrophy
defect in the dystrophin gene which is involved in Ca2+ transport
