Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome.

BACKGROUND: Klippel-Feil syndrome was first described in 1912; a short neck, low posterior hairline, and decreased cervical joint range of motion are the classical triad of this disease. In this syndrome, which is rarely observed, the characteristics that have been reported include the following: scoliosis; Sprengel deformity; cervical rib; ear, nose, oral, and laryngeal abnormalities; structural abnormalities of the urinary system; and congenital heart diseases. However, bilateral omovertebra and bilateral multilevel cervical ribs have not been reported. CASE DESCRIPTION: We aimed to present this rare syndrome via radiologic findings from cases with bilateral multilevel cervical rib and bilateral omovertebra. CONCLUSIONS: Cases of Klippel-Feil syndrome may be accompanied by multiple abnormalities. We want to highlight the need for detailed examination of patients and lifestyle modification at an early age, before symptom appearance, as well as adaptation to habitual exercise.

Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case.

BACKGROUND: Jarcho-Levin syndrome (JLS) is a rare congenital disorder characterized by different clinical and radiologic findings. The disease was first reported by Jarcho and Levin in 1938, and it was described as the presence of various malformations or abnormal fusion in the thoracic vertebrae and ribs, short trunk, and respiratory distress. CASE DESCRIPTION: In our case, fusion at the thoracic and cervical vertebrae, butterfly vertebrae, and a crablike-shaped thorax was present. The patient had a short trunk, short stature, and long extremities. Moreover, he had a syndromic face and restrictive-type respiratory distress. There was a glomus tumor in the carotid space. In our literature review, we found that neural tube defects are frequently present in this syndrome. However, we could not identify any cases with affected neural crest cells. CONCLUSIONS: JLS may affect cells derived from the neural crest located between the neural tube and surface ectoderm. Therefore patients with JLS should be screened for other tumors located in this area.