DDx
Diagnostic Considerations
Diagnostic considerations include:
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Camptomelic dysplasia (CD)
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Dyssegmental dysplasia, Silverman-Handmaker type (DDSH)
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Platyspondylic lethal skeletal dysplasia (PLSD)
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Rhizomelic chondrodysplasia punctata (RCDP)
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Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
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Short rib-polydactyly syndromes
Differential Diagnoses
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Achondroplasia (homozygous form)
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Hypophosphatasia (congenital)
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Osteogenesis Imperfecta (OI) type II
Media Gallery
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Infant with thanatophoric dysplasia. Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone receiver–like appearance).
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