CLINICAL APPROACH TO PATIENTS WITH KLIPPEL-FEIL SYNDROME

نویسندگان

چکیده

Objective: Klippel-Feil Syndrome (KFS) is a congenital syndrome that has short neck, fusion in at least 2 cervical vertebrae, and decrease neck movements the classic triad. KFS patients may have higher risk for mechanical spinal cord injury because of unstable segments. Patients should be examined extensively, since many anomalies accompany KFS. In current article, we aimed to present our cases with clinical, radiological, genetic results. Materials Methods: this study, total 317 MRIs required by Pediatric Surgery between 2012-2019 years various indications 90 CT reports 2019 were evaluated. Information was collected retrospectively file scan. Clinical, biochemical evaluation performed. Results: All had Sprengel deformity, anomaly, restricted movements, low hairline, growth retardation. Growth Differentiating Factor 6 (GDF6) gene negative all patients. Conclusion: The necessity treatment depends more on pathologies caused deformity other systemic findings. patient cautious avoid heavy exercise neurological deficits seen after minor trauma

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Klippel 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 کامل

Autosomal 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 کامل

Klippel-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...

متن کامل

Genitourinary anomalies associated with Klippel-Feil syndrome.

Of thirty-nine patients with Klippel-Feil syndrome, twenty-five (64 per cent) had significant genitourinary-tract anomalies demonstrated by intravenous urogram and physical examination. The incidence of these anomalies in Feil's three types of the syndrome was essentially the same, unilateral renal agenesis being the most common. A routine intravenous urogram is indicated in patients with this ...

متن کامل

Klippel-Feil Syndrome and Unilateral Diaphragmatic Paralysis

Figure 1. Sagittal plane, T2-weighted sequence with contrast showing segmentation anomalies of cervical vertebrae.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Konuralp Tip Dergisi

سال: 2021

ISSN: ['1309-3878']

DOI: https://doi.org/10.18521/ktd.791532