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KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT

Known as: Klippel Feil syndrome dominant type, KFS1, Cervical vertebral fusion, autosomal dominant 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1992-2018
051019922018

Related topics

Related topics

7 relations
Autosomal dominant inheritanceCleft PalateConductive hearing lossGDF6 gene
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Broader (1)

Klippel-Feil Syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Autosomal dominant inheritance
Scoliosis, unspecified
Sensorineural Hearing Loss (disorder)
Cleft Palate
Conductive hearing loss

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited… (More)
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2013
2013
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with… (More)
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2010
2010
Pedicle versus laminar screws: what provides more suitable C2 fixation in congenital C2–3 fusion patients?
Patients with Klippel–Feil syndrome (KFS) have congenital fusions of at least 1 cervical motion segment, and often present with… (More)
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2006
2006
Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.
AIM To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). METHODS… (More)
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2006
2006
Symptomatic cervical disc herniation in a pediatric Klippel-Feil patient: the risk of neural injury associated with extensive congenitally fused vertebrae and a hypermobile segment.
STUDY DESIGN A case report. OBJECTIVE To report the occurrence of a herniated cervical disc following a high-impact activity in… (More)
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1999
1999
The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology.
The authors conducted a study to identify radiological patterns of Klippel-Feil syndrome (KFS), and they present a new… (More)
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1998
1998
Heterogeneity in Klippel-Feil syndrome: a new classification
Background. Klippel-Feil syndrome (KFS) is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum… (More)
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1996
1996
Patterned expression in familial Klippel-Feil syndrome.
Klippel-Feil syndrome (KFS) is characterised by congenital fusion of vertebrae within the rostral spine. The first KFS gene (SGM1… (More)
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1995
1995
Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).
Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the… (More)
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1992
1992
Abnormal bone masses in Klippel-Feil syndrome.
Five female patients with Klippel-Feil syndrome (KFS) are presented with abnormal bony masses in the mandibular ramus region. The… (More)
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