Sprengel's deformity (also known as high scapula, scapular hypoplasia, 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. Majority of the cases are sporadic with very few having autosomal dominant inheritance.[1]
Sprengel's deformity
Other names
Sprengel deformity, Sprengel's shoulder, Sprengel shoulder, high scapula
Sprengel's deformity, showing a higher right-sided shoulder blade
omovertebral connections which are fibrous, cartilaginous or bony connection between the superomedial angle of scapula with the spinous process, lamina or transverse process of cervical spine
The left shoulder is more commonly affected, but it can occur bilaterally as well.[1]
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.
The scapula is small and rotated so that its inferior edge points toward the spine. 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 an omovertebral bone.[citation needed]
Most cases of Sprengel's deformity are sporadic but very few are inherited in an autosomal dominant manner.
Diagnosis is clinical and can be confirmed by instrumental diagnostics like conventional radiography and CT scan. It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel–Feil syndrome).
Eponymedit
It is named for German surgeon Otto Sprengel, who described it in 1891.[2][3]
Referencesedit
^ ab"Sprengel deformity | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-05-04.
^O. K. Sprengel. Die angeborene Verschiebung des Schulterblattes nach oben. Archiv für klinische Chirurgie, Berlin, 1891, 42: 545-549.
External linksedit
February 29, 2024
sprengel, deformity, also, known, high, scapula, scapular, hypoplasia, congenital, high, scapula, rare, congenital, skeletal, abnormality, where, person, shoulder, blade, that, sits, higher, back, than, other, deformity, failure, early, fetal, development, whe. Sprengel s deformity also known as high scapula scapular hypoplasia 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 Majority of the cases are sporadic with very few having autosomal dominant inheritance 1 Sprengel s deformityOther namesSprengel deformity Sprengel s shoulder Sprengel shoulder high scapulaSprengel s deformity showing a higher right sided shoulder bladeSpecialtyMedical genetics TypesMuscular formsThe deformity is associated with the following conditions Klippel Feil syndrome most common congenital scoliosis hemivertebrae cervical ribs fused ribs omovertebral connections which are fibrous cartilaginous or bony connection between the superomedial angle of scapula with the spinous process lamina or transverse process of cervical spine spina bifida cleft palate The left shoulder is more commonly affected but it can occur bilaterally as well 1 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 Contents 1 Presentation 2 Diagnosis 3 Eponym 4 References 5 External linksPresentation edit nbsp CT scan showing Sprengel s deformity of the left side arrow and fused cervical vertebrae as seen in Klippel Feil syndromeThe scapula is small and rotated so that its inferior edge points toward the spine 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 an omovertebral bone citation needed There is a high correlation between Sprengel s deformity and Klippel Feil syndrome citation needed Diagnosis edit nbsp Most cases of Sprengel s deformity are sporadic but very few are inherited in an autosomal dominant manner Diagnosis is clinical and can be confirmed by instrumental diagnostics like conventional radiography and CT scan It may be indicated to perform a genetic analysis as the deformity may occur under other conditions see Klippel Feil syndrome Eponym editIt is named for German surgeon Otto Sprengel who described it in 1891 2 3 References edit a b Sprengel deformity Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Retrieved 2022 05 04 synd 2450 at Who Named It O K Sprengel Die angeborene Verschiebung des Schulterblattes nach oben Archiv fur klinische Chirurgie Berlin 1891 42 545 549 External links edit Retrieved from https en wikipedia org w index php title Sprengel 27s deformity amp oldid 1184732038, wikipedia, wiki, book, books, library,
