Week 5: Medical Genetics- Skeletal Dysplasia Flashcards
Why are some skeletal dysplasias lethal?
Small rib cage = pulmonary hypoplasia
Inheritance of Ellis Van Crevald
AR
What type of dwarfism in Ellis Van Crevald
Short-limb
3 major features of Ellis Van Crevald
Polydactyly, ectodermal dysplasia, deal abnormalities
Inheritance of Pseudoancondroplasia
AD
What type of dwarfism in pseudoachondroplasia?
Short-limb
3 main features of Pseudoachondroplasia
Waddling gait, chronic joint pain, hypermobile joints
Inheritance of Achondroplasia
AD
What type of dwarfism in Achondroplasia?
Short-limb
3 major features of Achondroplasia
Trident hands, lumbar lordosis, characteristic face
Inheritance of Spondyloepiphyseal dysplasia
AD
What type of dwarfism in Spondyloepiphyseal dysplasia
Short-trunk
3 major features of Spondyloepiphyseal dysplasia
Disproportionate stature, myopia, sometimes cleft palate/club feet
Inheritance of Morquio Syndrome
AR
What type of dwarfism in Morquio syndrome
Short trunk
3 major features of Morquio syndrome
Dysostosis multiplex, atlantoaxial instability, valvular heart disease, corneal clouding
Treatment for Morquio Syndrome
ERT
Inheritance of Cartilage Hair Hypoplasia
AR
What type of Dwarfism in Cartilage hair hypoplasia
Short trunk
3 major features in Cartilage hair hypoplasia
Blond/fine hair, defective T-cell immunity, GI deformities
