Severe Klippel-Feil syndrome with Mondini malformation of inner ear
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چکیده
منابع مشابه
Severe Klippel-Feil syndrome with Mondini malformation of inner ear
Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal b...
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...
متن کاملGenitourinary 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 ...
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ژورنال
عنوان ژورنال: Pan African Medical Journal
سال: 2014
ISSN: 1937-8688
DOI: 10.11604/pamj.2014.19.254.4998