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Devt. disorder bone & cartilage (Defects in Hormones & Signal…
Devt. disorder bone & cartilage
Defects in Hormones & Signal transduction protein
1) Achondrodroplasia
most common skeletal dysplasia
Cause-gain of fx in FGFR3
2)Thanatophoric dwarfism
most com. lethal for of dwarfism
also FGFR3
dim. prolif of chrondrocytes
shortening limbs, frontal bossing,
small chest cavity
OI Sutbtype
OI type 1
Compatible w/ survival
Normal stature
Blue sclera
Hearing impaired, joint laxity
OI type II
Paerinathal lethal
Death in utero w/in days of birth
OI type III
Progressive deforming
Compatible w/ survival
Progressive kyphoscoliosis
Blue sclera->turns white
OI type IV
Compatible w/ survivle
Postnatal fractures
N. sclerae
short stature
Mod. skel fragility
3)Osteogenesis Imperfecta
Brittle bone disease
def in synt. of
type 1 collagen
extreme skeletal fragility
blue sclerae, hearing loss, dental imperfect (small, mishapen, blue yellow teeth)
1)Dystoses
localized problem in migration & condensation of mesenchyme
-aplasia, supernumerary digit, syncactyly, craniosynostosis
2)Dysplasias
global disorganization of bone & cartiliage
Defect in nuclear protein & transcription factors
1)Brachydactyly types D& E
shortening, terminal phalanges of thumb & big toe
2)Cleidocranial dysplasia
patent fontanelles, delayed closure of cranial sutures
Wormian bones
(extra bones in cranial sutures)
Delayed eruption of 2ndary teeth,
primitive clavicles, short height
Defect Metabolic Pathways(Enzymes, Ion Channels, &Transporters)
Osteopetrosis
Marble bon
e disease &
Albers-Schongerg
Disease
-reduce. bone resorption=impaired fx of
osteoclasts
-Absence of
Carbonic anhydrase II
prevent osteoclasts acidfying resoprtion pit & solubilizing hydroxyapatite
brittle bone, facture like chalk
Erlenmeyer flask deformity & misshapen
Woven bone
Prim. Spongios fills medullary cavity
no room for
hematopoietic marrow
Clinical feat:
CN defect=Optic atrophy, deafness & facial paralysis
Anemia, repeated fatal infections;inadeqaute marrow
fracture, hydrocephaly
Prominent hepatosplenomegaly
Treatment:
1st genetic disease treated w/ hematopoietic stem cell transplantation
Diseases w/ Defects in folding & degradation of macromolecules
MUCOPOLYSACCHARIDOSES
accumulate in
chondrocytes
& ECS
Abnorm. hyaline cartilage
Lysosomal storage disease caused by def. enzymes
dermatan sulfate, heparan sulfate, keratan sulfate
short stature, Chest abn. & malformed bones