Sprengel Deformity Misdiagnosed as Turner Syndrome: A case report

Abstract

Introduction: Webbed neck and short statue are often associated with Turner syndrome in female patients. However, other differentials should be considered if webbed neck is associated with normal stature and positive family history.
Case report: We present a 10yr old girl who presented at our out-patient department with few days history of nasal discharge and cough. She was found to have webbed neck on physical examination, on account of which she was referred to paediatric endocrine clinic with a presumptive diagnosis of Turner’s syndrome. Her weight and height were at the 75th and 50th percentile respectively. There was no radio-femoral delay, and her blood pressure was less than the 50th percentile for her age and height. There was also elevated right shoulder with no limitations of movement. Abdomino-pelvic ultrasound, karyotyping and hormonal studies were within normal limits. Chest x-ray revealed Sprengel deformity of the right shoulder. Her mother had a milder form of short neck (not webbed) and asymmetric shoulders. Conclusions: Not all patients with short webbed neck have Turner syndrome