Freeman Sheldon syndrome
Updates to Article Attributes
Body
was changed:
Freeman Sheldon syndrome (FSS) (also known as distal arthrogryposis type IIa) is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is also sometimes known as the whistling face syndrome.
Pathology
Genetics
It is thought to carry an autosomal dominant inheritance in most cases with occasional sporadic and autosomal recessive forms.
Clinical features
The clinical spectrum includes
-
cranio-facial:
- long philtrum
- mouth puckering
- microstomia
- H-shaped chin dimple
- orbital features
- hypotelorism 8:
- drooping of the upper eyelids :
- strabismus:
- low-set ears
- gradual hearing loss
- microcephaly
-
musculoskeletal
-
arthrogryposis: joint contractures
:often tends to be severe - camptodactyly
- ulnar deviation
- equinovarus
- congenital kyphoscoliosis
- club feet
-
arthrogryposis: joint contractures
EtymologyHistory and etymology
It was initially described by E A Freeman and J H sheldon in 1938 6
-<strong>cranio-facial</strong><ul>- +<strong>cranio-facial:</strong><ul>
-<a href="/articles/hypotelorism">hypotelorism</a> <sup>8</sup> :</li>- +<a href="/articles/hypotelorism">hypotelorism</a> <sup>8</sup>:</li>
-<a href="/articles/strabismus">strabismus</a> :</li>- +<a href="/articles/strabismus">strabismus</a>:</li>
-<a href="/articles/arthrogryposis">arthrogryposis</a> : joint contractures : often tends to be severe</li>- +<a href="/articles/arthrogryposis">arthrogryposis</a>: joint contractures often tends to be severe</li>
-</li></ul><h4>Etymology</h4><p>It was initially described by <strong>E A Freeman</strong> and <strong>J H sheldon </strong>in 1938 <sup>6</sup></p>- +</li></ul><h4>History and etymology</h4><p>It was initially described by <strong>E A Freeman</strong> and <strong>J H sheldon </strong>in 1938 <sup>6</sup></p>
Images Changes:
Image 1 MRI (STIR) ( update )
Caption
was changed:
Case 1 .: with patella subluxation