title: Sprengel's deformity: association with musculoskeletal dysfunctions and tethered cord syndrome.
abstract: Sprengel's deformity is a rare and complex congenital deformity of the shoulder girdle. The deformity commonly occurs sporadically, though in combination with other congenital anomalies, such as congenital scoliosis, fusion of cervical vertebrae, and conditions like Klippel-Feil syndrome may coexist. We report a case of a 14-year-old girl with bilateral Sprengel's deformity presenting with a progressive bilateral lower limb weakness and gait abnormality. Radiological investigations demonstrated multiple musculoskeletal abnormalities on x-ray and lumbar spina bifida occulta causing tethering of the cord on MRI. The patient consulted neurosurgeons and orthopaedic surgeons, who recommended no operative intervention and conservative management till the end of growth spurt. Therefore, we prescribed a home-based exercise regimen to strengthen the periscapular and intrinsic foot muscles. Although rare, Sprengel's deformity can be associated with other musculoskeletal abnormalities including lumbar spina bifida and comprehensive neurological examination should not be ignored as it is much more than a cosmetic problem.
authors.affiliation: Physical Medicine and Rehabilitation, All India Institute of Medical Sciences, New Delhi, India. mittalnimish@gmail.com
authors.forename: Nimish
authors.initials: N
authors.lastname: Mittal
authors.forename: Ritu
authors.initials: R
authors.lastname: Majumdar
authors.forename: Sonal
authors.initials: S
authors.lastname: Chauhan
authors.forename: Minati
authors.initials: M
authors.lastname: Acharjya
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000628:therapy*; D005081:Exercise Therapy; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000628:therapy*; D012540:Scapula / Q000002:abnormalities*; D012600:Scoliosis / Q000175:diagnosis / Q000628:therapy; D012785:Shoulder Joint / Q000002:abnormalities*