Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children
نویسندگان
چکیده
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 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 کاملAnaesthetic considerations in Klippel-Feil syndrome.
Anaesthesia for the repair of a large occipito cervical encephalomyelocele in a neonate with Kippel-Feil syndrome is described. The fusion of the cervical spines, a short neck, low posterior hair line and Sprengel's deformity, which were present in this patient, collectively indicated Klippel-Feil syndrome. In addition to the usual stigmata of the syndrome, this patient had a large encephalomye...
متن کاملTwo cases of Klippel - Feil Syndrome
Klippel-Feil Syndrome (KFS), also known as synostosis of cervical spine, is sporadic, but seldom may be inherited [1,2]. The absence of population screening studies has made it impossible to define the exact incidence and prevalence of KFS. Nevertheless, it has been estimated that it occurs in approximately 1:40,000 to 1:42,000 births [3]. KFS, or synostosis of the cervical spine, occurs as a r...
متن کاملAudiological abnormalities in the Klippel-Feil syndrome.
Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline. Radiologically, there is a failure of cervical segmentation. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. The audiological assessment of 44 patients with KFS is reported. Thirty five were found to have abnormalities on audiological tes...
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ژورنال
عنوان ژورنال: JAMA Otolaryngology–Head & Neck Surgery
سال: 2018
ISSN: 2168-6181
DOI: 10.1001/jamaoto.2017.2917