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Cord Injury - Hyperflexion Teardrop
Joseph Junewick, MD FACR
over 7 years ago
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Achondrogenesis

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic or Congenital
Created: over 8 years ago
Updated: over 8 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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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.



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