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Pili torti-deafness syndrome

Known as: Bjornstad syndrome, Pili torti and nerve deafness, Pili torti-sensorineural hearing loss 
National Institutes of Health

Related topics

Related topics

9 relations
AlopeciaAnhidrosisAutosomal recessive inheritanceBCS1L gene

Broader (3)

Hair DiseasesMitochondrial DiseasesSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Diffraction at Rounded Wedges : MoM Modeling of PTD Fringe Waves
─ The paper examines diffraction at rounded wedges with perfectly conducting faces. This topic was a subject of many publications… 
2015
2015
Steatocystoma multiplex with hair shaft abnormalities
Steatocystoma multiplex (SM) is an unusual benign disorder of the pilosebaceous duct characterized by multiple cysts with little… 
1996
1996
Pili bifurcati: occurring in association with the mosaic trisomy 8 syndrome.
The trisomy 8 mosaic syndrome may present in many different ways. We present a rare hair anomaly in a patient with this syndrome. 
1995
1995
Scanning electron microscopy in the diagnosis of pili multigemini.
1986
1986
Pili Trianguli et Canaliculi: A Nonfamilial Case With Eyebrow and Eyelash Involvement
To the Editor.— In 1973 Stroud and Mehregan described a patient with abnormally crimped hair, with triangular or kidney-shaped… 
Review
1985
Review
1985
Association of pili torti and leukonychia.
A patient with both pili torti and leukonychia had a family history indicating dominant inheritance for the nail changes. However… 
1982
1982
[A syndrome: uncombable hair. Observation of 6 members of a family with pili canaliculi, associated with pili torti, progressive alopecia, atopic eczema and hamartomas].
Six members of one family showed the typical clinical picture of uncombable hair (cheveux incoiffables), a syndrome first… 
1979
1979
[Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
Report on a family with numerous relatives in 7 generations suffering from hypotrichosis congenita hereditaria Marie Unna type… 
1978
1978
[Ichthyosis vulgaris, deafness, pili torti and tooth abnormalities].
A 18 year old female patient is reported, who has ichthyosis vulgaris, deafness, pili torti and anomalies of the teeth. The… 
1953
1953
Congenital pilar defect showing features of pili torti.