19- Disorders of Growth/Development Flashcards
What is dysplasia?
a condition affecting growth or development in which the primary defect is intrinsic to the affected tissue
What is dysostosis?
condition of abnormal cartilage ossification or bone remodeling. Usually only a single bone or group of bone involved
What is dystrophy?
condition resulting from defective or faulty nutrition, broadly constructed to include nourishment of tissue by all essential substances including those normally manufactured by body itself
What are the 2 extrinsic factors that can affect fetal cartilage?
hormonal abnormalilites, metabolic disturbances
At what height is dwarfism in males and females?
Males < 58in, Females < third percentile for age
What is proportionate dwarfism?
short stature where BOTH trunk and extremities are EQUALLY affected
What is disproportionate dwarfism?
extremities are relatively affected more or less than trunk
What is rhizomelia?
proximal segments are disproportionately shorter than middle and distal segments
What is mesomelia?
middle segments are disproportionately shorter than proximal and distal segments
What is acromelia?
distal segments are disproportionately shorter than proximal segments
What is micromelia?
shortness of limb
What would happen if there are problems with intramembranous ossification?
Abnormalities seen in patients with cleidocranial dysplasis
I) Cranial facial abnormalities
II) no clavicle
What is the etiology of DMD?
disruption of muscle cell membrane physiology which results in abnormal muscle function
What is the predominant ECM component of bone, tendon and ligament?
type I
What is the morphology of collagen?
triple helix
What are the genetic defects to cause osteogenesis imperfecta?
transcription, translation, hydroxylation, glycosylation, cross linking, extracellular transport, cleavage of procollagen
What are the etiologies of short stature?
A)Malnutrition
B) endocrinopathy
C) Skeletal dysplasia
D) Constitutional short stature
Why is family Hx important for pt’s with skeletal dysplasias?
Many skeletal dysplation are caused by genetic mutation transmitted by mendelian patterns of inheritance