Klippel-Feil Syndrome with Sprengel Deformity
نویسندگان
چکیده
منابع مشابه
Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy presentation in old age
Klippel-Feil syndrome is a rare condition characterized by the congenital fusion of two of the seventh cervical vertebrae. A 50-year-old woman presented with a 2-year history of neck pain and ataxia for 1 year. She had not urinary incontinence. She was referred to a neurosurgeon by a neurologist because of her progressive gait ataxia. Risk for brachial plexus injury because of compression or st...
متن کاملKlippel–Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review
Introduction Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature...
متن کاملKlippel Feil syndrome
In 1912, Klippel and Feil (1) first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of the cervical spine, the classic clinical triad which is the hallmark of Klippel-Feil syndrome (KFS). It is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Mutations in the GDF6 and GDF3 genes can cause KFS (2). ...
متن کاملAutosomal recessive Klippel-Feil syndrome.
In 1912, Klippel and Feill reported the first clinical details and necropsy findings of a syndrome characterised by the triad short or absent neck, severe limitation of head movement, and low posterior hairline. An Egyptian mummy (from 500 BC) is the oldest subject in whom Klippel-Feil syndrome has been seen.2 Another interesting observation is the similarity between the figure of an old man de...
متن کاملKlippel-Feil syndrome associated with aortic coarctation.
Aortic coarctation was diagnosed in a 27-year-old man with Klippel-Feil syndrome, an inborn skeletal defect of the vertebral column associated with anomalies of various organs. The presented findings are discussed in the context to the theory of vascular artery supply disruption sequence during embryogenisis as a potential explanation for the pathogenesis of morphological defects of Klippel-Fei...
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ژورنال
عنوان ژورنال: Journal of Radiology Case Reports
سال: 2019
ISSN: 1943-0922
DOI: 10.3941/jrcr.v13i5.3565