Hosting 728 files, 2951 images, and 4 contributors.

Random Case

Radioulnar Synostosis
Joseph Junewick, MD FACR
over 11 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

Thanatophoric Dysplasia - Teenager

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


Teenager with dwarfism.

Case Images


Thanatophoric Dysplasia


CR – Narrow thorax with horizontal ribs, short broad tubular bones, and abnormal pelvis with short ilia and small ischiopubic rami. The vertebral bodies have decreased AP diameter but relatively normal height.


Thanatophoric dysplasia is an autosomal dominant dwarfism characterized by very short extremities, narrow thorax, relatively normal trunk length and death in infancy. The underlying genetic defect is related to mutation of the fibroblast growth factor receptor 3.

The major radiographic features include: 1) narrow thorax in AP and lateral dimensions secondary to short ribs, 2) Flat vertebral ossifications with central notches in the endplates, 3) abnormal ilia with decreased vertical height, horizontal inferior margins, and small sciatic notches, 4) small pubic and ischial bones, 5) short and broad tubular bones, 6) small facial bones with relatively large calvaria, and 7) craniosynostosis.

Respiratory insufficiency usually results in death in the neonatal period; rarely patients can survive with thoracoplasty and/or assisted ventilation. Central nervous system anomalies are common and result in developmental delay and/or seizure disorders.


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