Common life-limiting skeletal dysplasias with severe micromelia and small thorax

Diagnosis	Bone mineralization	Fractures	Macrocranium	Short trunk
Thanatophoric dysplasia^*	Normal	No	Yes	No
Short-rib polydactyly syndromes^*	Normal	No	No	No
Homozygous achondroplasia^*	Normal	No	Yes	No
Achondrogenesis	Patchy demineralization	Occasional	Yes	Yes
Osteogenesis imperfecta type 2	Generalized demineralization	Innumerable	No	Yes
Hypophosphatasia congenita	Patchy or generalized demineralization	Occasional	No	No

* Thanatophoric dysplasia can be distinguished from homozygous achondroplasia because in the latter both parents are affected heterozygotes and it can be distinguished from short-rib polydactyly syndrome because the latter has normal cranial size and polydactyly.

Graphic 50414 Version 6.0

خرید پکیج

Common life-limiting skeletal dysplasias with severe micromelia and small thorax