Sprengel's deformity

Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. The deformity is commonly associated with other conditions, most notably Klippel-Feil syndrome, congenital scoliosis including cervical scoliosis, fused ribs, the presence of an omovertebral bone and spina bifida. The left shoulder is the most commonly affected shoulder but the condition can be bilateral, meaning that both shoulders are affected. About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.

Sprengel's deformity
Other namesHigh scapula
Sprengel's deformity is inherited in an autosomal dominant manner
SpecialtyMedical genetics 
Typesmuscular forms

Presentation

The scapula is small and rotated so that its inferior edge points toward the spine. There is a high correlation between Sprengel's deformity and the Klippel-Feil syndrome. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as the omovertebral bone.

Diagnosis

Is essentially clinical and can be confirmed by instrumental diagnostics like conventional radiography and CT scan. It may be indicated to perform a genic analysis because as reported above, this deformity may occur under other conditions (see Klippel-Feil syndrome).

Treatment

Till now surgery in early stage is the only way .

Eponym

It is named for Otto Sprengel.[1][2]

References
  1. synd/2450 at Who Named It?
  2. O. K. Sprengel. Die angeborene Verschiebung des Schulterblattes nach oben. Archiv für klinische Chirurgie, Berlin, 1891, 42: 545-549.
Classification
External resources


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.