Common lethal skeletal dysplasias with severe micromelia and small thorax

Diagnosis	Bone mineralization	Fractures	Macrocranium	Short trunk
Thanatophoric dysplasia*	Normal	No	Yes	No
Achondrogenesis	Patchy demineralization	Occasional	Yes	Yes
Osteogenesis imperfecta type 2	Generalized demineralization	Innumerable	No	Yes
Hypophosphatasia	Patchy or generalized demineralization	Occasional	No	No

* Distinguished from homozygous achondroplasia because in the latter both parents are affected heterozygotes. Distinguished from short-rib polydactyly syndrome because the latter has normal cranial size and polydactyly.

Graphic 50414 Version 5.0

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