Patient with a high riding scapula

Clinical History

6 year old boy with short neck, head and neck deviation to the left side, shoulder asymmetry and limitations of left shoulder movements in abduction and elevation.

Imaging Findings

The patient initially had plain films of the thorax which showed elevation of the left scapula.
He then had MR of the left shoulder with sagittal and coronal reformatting which showed the affected scapula to be elevated and adducted with its inferior pole medially rotated while the glenoid faced inferiorly. There were also additional vertebral findings, such as fusion of C5 to C7 vertebral bodies.

Discussion

Sprengel's deformity is a complex congenital skeletal abnormality in which the patient has one or both shoulder blades that sit higher on the back than normally (left is the most common location) [1]. It is also usually associated to changes in axial rotation, shape, and size of the scapula [1]. This condition also involves regional muscle hypoplasia or atrophy, which causes limitation of shoulder movement [2]. The deformity results from failure to descent of the scapula from the C5-T1 position to the T2-T7 position at birth which probably occurs between the 9th and 12th week of gestation.
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 [2, 3], which was not seen in this case.

Klippel-Feil syndrome (KF) is also a complex but heterogenous entity that results in congenital cervical vertebral fusion [4]. It was originally described by Maurice Klippel and Andre Feil in 1929 with patients having a triad of short neck, low posterior hair line and limited range of motion [5].
KF is believed to result from faulty segmentation along the embryo’s developing axis during the 3rd to 8th weeks of gestation [4]. Mutations of GDF6 and GDF3 genes can cause KF. These provide instructions for making proteins that belong to the bone morphogenetic protein family, which is involved in regulating the growth and maturation of bone and cartilage [6].

Numerous associated abnormalities of other organ systems may be present: vertebral (scoliosis, spina bifida, cervical spondylosis), Sprengel’s deformity, torticollis, pterygium coll, cleft palate, genitourinary (hydronephrosis, tubular ectasia, ovarian agenesis, absence of vagina), pulmonary system (ectopic lung, agenesis of lung, bronchogenic cyst), cardiovascular malformations (interventricular septal defect, patent ductus arteriosus, coarctation of aorta, patent foramen ovale) [4, 7].

Treatment for KF is symptomatic and includes physical therapy. Surgery may be needed to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. If the KF occurs in association with Sprengel’s deformity, the high scapula may be surgically restored to its normal position [8].
The prognosis for most individuals with KF is good if the disorder is treated early. Activities that can injure the neck should be avoided. Other diseases associated with the syndrome can be fatal if not treated, or if found too late [5].

Differential Diagnosis List

Final Diagnosis

Klippel–Feil syndrome with an assotiated Sprengel Deformity

URL:	https://eurorad.org/case/10947
DOI:	10.1594/EURORAD/CASE.10947
ISSN:	1563-4086