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Achondrogenesis
Case Detail
| Anatomy: Musculoskeletal |
 Joseph Junewick, MD FACR |
| Diagnostic Category: Genetic or Congenital |
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| Created: over 3 years ago |
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| Updated: over 2 years ago |
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| Tags:
PEDS
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| Modality/Study Types:
CR
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Activities:  PDF  ImageJA |
History
Hydropic appearing stillborn with severe micromelia.
Case Images
Diagnosis
Achondrogenesis.
Findings
Absent vertebral ossification.
Small iliac bones and non-ossified pubi and ischia.
Extremely short tubular bones with cupped metaphyses.
Horizontal short ribs.
Hypoplastic mid-face and mandible.
Protuberant abdomen.
Speckled abdominal calcification related to meconium peritonitis.
Discussion
Achondrogenesis is one of the lethal osteochondrodysplasias. Other lethal dysplasias include thanatophoric dysplasia, the short-rib syndromes, some forms of osteogenesis imperfecta, chondrodysplasia punctata, asphyxiating thoracic dysplasia, campomelic dysplasia, and others.
Reference
Spranger JW et al. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed. 2002.