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
Rare disorder of collagen production leading to brittle bones
Osteogenesis imperfections
What is the most severe form of osteogenesis imperfecta?
Type II
