Monday, February 6, 2012


Some people believe that the person shown above suffered from a syndrome characterized by congenital fusion of cervical vertebrae, though others dispute the claim. Below is shown an image of a patient who actually has the disease.

A variable number of vertebrae can be fused, which may result in atlantoaxial instability. There are autosomal dominant, autosomal recessive, and sporadic variants. Significant scoliosis develops in more than half of affected children. The most common sign is limitation in range of motion of the neck. Some patients also have a low hairline and short neck. Associated findings include deafness, genitourinary abnormalities, and cardiovascular abnormalities.

Challenge: What's this disease?

First image shown under Creative Commons Share-Alike License; second image is in the public domain.


Jax said...

Klippel–Feil syndrome!

Anonymous said...

klippel-feil syndrome


Klieppel Fiel Syndrome?

prashant gupta said...

klippel fiel syndrome

Craig Chen said...

wow! i just admitted a patient with Klippel Feil and I had no idea what it I made it into a case of the day...good job!

This is Klippel-Feil syndrome.

Source: UpToDate; Wikipedia.