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Short Rib Syndrome
Joseph Junewick, MD FACR
over 8 years ago
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Case History


Hydropic appearing stillborn with severe micromelia.


Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic or Congenital
Created: over 10 years ago
Updated: over 9 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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Case Images


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Reveal 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.

Reveal 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.

Reveal Diagnosis

Achondrogenesis.

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