Test #2 Flashcards
(203 cards)
Failure of development of a bone; congential absence of a rib or clavicle or fingers or toes
Adactyly
A congenital abnormality characterized by an absence of upper or lower extremities or both
Amelia
Fusion of the fingers or the toes
Syndactyly
Development of long “spider-like fingers”; classic feature of Marfan’s syndrome; also observed in various disorders involving gnees that encode extracellular matrix proteins as in Ehlers Danlos Syndrome
Arachnodactyl
Type of dwarfism that is caused by a deficiency of thyroid hormones
Cretinism
This type of dwarfism is associated with pituitary abnormalities
Growth Hormone secretion (deficiency?)
This type of dwarfism is caused by a deficiency of growth hormone receptors
Laron-type dwarfism
A congenital form of dwarfism caused by abnormal formation of epiphyseal growth plates of long tubular bones
Achondroplasia
The deficit for Achondroplasia lies in genes encoding for what?
Fibroblast Growth Factor Receptor-3
Individuals with this disorder have short limbs, normal trunks, & relatively large heads. Longevity, intelligence, or reproductive status are not affected
Achondroplasia
This type of dwarfism usually causes death at birth or shortly thereafter. Caused by mutation of FGFR-3
Thanatophoric Dwarfism
Charateristics of Thanatophoric dwarfism
shortening of limbs, relative macrocephaly, small chest cavity, bell-shaped abdomen
Disorder where too little bone is formed due to a mutation of the genes encoding the chains of Type I collagen
Osteogenesis Imperfecta
A genetic disorder characterized by abnormal thickening of bones
Osteopetrosis AKA Marble Bone Disease AKA Albers-Schonberg Disease
Osteopetrosis is caused by?
An undefined defect in the juntion of osteoclasts, which do not reabsorb the bone
Osteopetrosis causes obliteration of the marrow space which leads to what?
anemia
A deficiency of this enzyme in osteopetrosis keeps osteoclasts from solubilizing hydroxyapatite crystals
Carbonic anhydrase II
Type of osteopetrosis where mutation in the genes causes osteoclast dysfunction by interfering w/ what?
chloride channels
A disease characterized by increase porosity of the skeleton resulting from reduced bone mass
Osteoporosis
Most common forms of osteoporosis?
Senile & post menopausal
What two endocrine diseases are assoc. w/ osteoporosis?
Cushing syndrome & hyperthroidism
Literally means “lack of bone”; radiologic term used to denote a decreased amount of bone visible on x-ray
Osteopenia
Characterized by a defect in matrix mineralization related most often to lack of or disturbance of metabolism of Vit. D
Rickets (children)/Osteomalcia (Adults)
Miscellanceous bone disease of uncertain cause; characterized by a “collage of matrix madness”; caused by slow viral infection of paramyzovirus
Osteitis Deformans (Paget’s Disease)