Chapter 64 Flashcards
Shortening of middle segments
Mesomelia
Shortening of entire extremity
Micromelia
Shortening of distal segments
Acromelia
Most common lethal
Thanatophoric
Lethal short limb dwarfism
Clover leaf skull
Ventriculomegaly
Protuberant abdomen
Thanatophoric
Most common nonlethal
Achondroplasia
Short squat bones
Achondroplasia
Defect in cartilage of epiphyseal bones
Achondroplasia
Advanced paternal age risk
Achondroplasia
When do we see femoral or humoral length fall behind SD in achondroplasia
After 22 weeks
Extremities notably shortened
Normal trunk
Enlargement of head
Heterozygous achondroplasia
Short limb dwarfism affecting fetuses of achondroplastic parents
Homozygous achondroplasia
Cartilage malformation
Abnormal bone and hypomineralization
Achondrogenesis
Which type of achondrogenesis is more severe
Type 1- Parenti Fraccaro
Flipper like appendages
Lethal
Long bone and trunk shortening
Achondrogenesis
Disorder of collagen production
Brittle bones
Osteogenesis imperfecta
Hypomineralization
Multiple fractures
Bell shaped thorax
Compression of chest
Osteogenesis imperfecta
Hypomineralization caused by alkaline phosphatase deficiency
Hypophosphatasia
Similar to OI type 2 and achondrogenesis
Hypophosphatasia
Bowed or fractured bones
Poorly ossified cranium
Ribbon like bowed limbs
Hypophosphatasia