Ch 64 Flashcards
This is referred to as “dwarf syndrome”
osteochondrodysplasia
Protocol consists assessing the following regarding skeletal dysplasia
- Limb shortening
- Limb contour
- Thoracic circumference / shape
- Check hand and foot anomalies
- Evaluate face for anomalies
- Rule out other anomalies such as hydrocephaly, heart defects, and non-immune hydrops
Shortening of the proximal segments {humerus and femur}
Rhizomelia
Shortening of the middle segments {radius / ulna and the tibia / fibia
Mesomelia
Shortening of the entire extremity
Micromelia
Distal segments {hands}
Acromelia
Thanatophoric dysplasia / dwarfism occurs _______
1 : 4,000 - 10,000
What is the most common lethal skeletal dysplasia
Thanatophoric dysplasia / dwarfism
With thanatophoric dysplasia both parents are of normal stature {T/F}
True
Short, curved femurs and flat vertebral bodies describes thanatophoric dysplasia type ___
Type I
Short, straight femurs, flat vertebral bodies and a cloverleaf skull describes thanatophoric dysplasia type ___
Type II
Sonographic findings of thanatophoric dysplasia
Severe Micromelia
Narrow thorax
Cloverleaf skull
Protuberant abdomen
Frontal bossing
Hypertelorism
Flat vertebral bodies {platyspondyly}
Polyhydramnios, hydrocephaly, nonimmune hydropsWhat is the most common NONLETHAL skeletal dysplasia?
Achrondroplasia
Form of achondroplasia with a good survival rate, normal intelligence and life span; inherited from one parent
Heterozygous achondroplasia
Form of achondroplasia that is lethal; narrow thorax resulting in respiratory complications. This is inherited from two parents.
Homozygous achondroplasia
With achondroplasia, sonography features may not be evident until after ____ weeks
22
Sonographic features of achondroplasia {6}
- Rhizomelia
- Microcephaly
- Trident hands
- Depressed nasal bridge
- Frontal bossing
- Mild ventriculomegaly
What is achondrogenesis caused by??
Caused by cartilage abnormalities
•abnormal bone formation
•hypomineralization
This is the more severe form and is transmitted in an autosomal recessive mode; achondrogenesis type ___
Type I - {parents-fraccaro}
This is a less severe form of achondrogenesis, but it is MORE COMMON, and the result of a spontaneous mutation. Achondrogenesis type ___
Achondrogenesis type II
Abnormal growth and density of cartilage and bone
Skeletal dysplasia
