منابع مشابه
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 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 کاملKlippel-Feil Syndrome and Unilateral Diaphragmatic Paralysis
Figure 1. Sagittal plane, T2-weighted sequence with contrast showing segmentation anomalies of cervical vertebrae.
متن کاملThe Klippel-Feil syndrome: a case report.
Short neck and fusion of cervical vertebrae are observed in several genetic conditions and well-defined syndromes. An 8-year-old boy with a short neck, low-set posterior hairline, deafness and limited neck motion was suspected of having such a condition. Clinical and radiographic examination led to the diagnosis of Klippel-Feil syndrome.
متن کاملKlippel-Feil syndrome: a case report.
OBJECTIVE To report the clinical presentation and peculiarity of management of Klippel-Feil syndrome (KFS) at the University of Abuja Teaching Hospital, Gwagwalada. BACKGROUND KFS is a rare pathology that has not been previously reported on in Nigeria. METHODS Case review was employed to report this pathology. RESULT This case is a 10 year old boy with KFS presenting with cosmetic blemish...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.2.130