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Common lethal skeletal dysplasias with severe micromelia and small thorax

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.
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