Hosting 728 files, 2951 images, and 4 contributors.

Random Case

Frontal Arteriovenous Malformation
Joseph Junewick, MD FACR
over 7 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Short Rib Syndrome

Case Detail

Anatomy: Musculoskeletal
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: CR
Adobe32 PDF Imagej32 ImageJA


Stillborn male with anomalies.

Case Images


Short Rib Syndrome

Clinical Notes

Autopsy – Significant findings include: 1) proboscis with absent nasal cavity, 2) single orbit containing 2 malformed oculi, 3) semilobar holoprosencephaly, 4) common AV valve with truncus malformation, 5) bowel malrotation, 6) pulmonary hypoplasia, 7) small hyperlobulated kidneys, 8) gonadal hypoplasia, 9) absent adrenal glands, 10) pharyngeal dysmorphism with cleft and 11) cartilage dysplasia.


CR – Significant findings include: 1) Anasarca, 2) short horizontal ribs with thoracic hypoplasia, 3) small round scapulae, 4) small ilia, 5) marked symmetric micromelia with very short tubular bones mesomelic greater than rhizomelic, 6) bowed radii and ulnae, 7) platyspondyly, 8) relatively large skull with thin calvaria, 9) flat mandibular angle, and 10) postaxial polydactyly with symphalangism.


Short rib syndrome is an autosomal recessive lethal dysplasia. There are multiple types with significant radiological and pathological overlap. The above case demonstrates most of the significant radiographic findings.


Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 2nd Ed (2002).

Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare