Pili torti with congenital deafness (Bjornstad syndrome): A case report

Pediatric Dermatology

Volumn 16, Issue 3, 1999, Pages 220-221

  Loche, F ^a   Bayle Lebey, P ^a   Carriere, J P ^a   Bonafe, J L ^b   Bazex, J ^a   Schwarze, H P ^a  

^a CHU PURPAN   (France)

^b CHU RANGUEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BJOERNSTAD SYNDROME; CASE REPORT; CHROMOSOME 2Q; CONGENITAL DEAFNESS; DISEASE TRANSMISSION; FEMALE; GENETIC ASSOCIATION; HAIR DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME DELINEATION;

CHILD, PRESCHOOL; FEMALE; HAIR DISEASES; HEARING LOSS, BILATERAL; HUMANS; SYNDROME;

EID: 0033007615     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1525-1470.1999.00063.x     Document Type: Article

References (9)

1. Bjornstad R. Pili torti and sensory-neural loss of hearing. Proceedings of the Seventh Meeting of the Northern Dermatological Society, Copenhagen, May 27-29, 1965.
2. Voigtländer V. Pili torti with deafness (Bjornstad syndrome). Report of a family. Dermatologica 1979;159:50-54.
3. Crandall BG, Samec L, Sparkes RS, Wright SW. A familial syndrome of deafness, alopecia and hypogonadism. J Pediatr 1973;82:461-465.
4. Scott MJ, Bronson DM, Esterly NB. Bjornstad syndrome and pili torti. Pediatr Dermatol 1983;1:45-50.
5. Petit A, Dontenwille MM, Blanchet Bardon C, Civatte J. Pili torti with congenital deafness (Bjornstad's syndrome). Report of three cases in one family, suggesting autosomal dominant transmission. Clin Exp Dermatol 1993;18:94-95.
6. Hellier FF, Astbury WJ, Bell FO. A case of pili torti. Br J Dermatol 1940;52:173.
7. Birnbau PS, Baden HP. Heritable disorders of the hair. Dermatol Clin 1987;5:137-153.
8. Kurwa AR, Abdel-Aziz AHM. Pili torti - congenital and acquired. Acta Derm Venereol (Stockh) 1973;53:385-392.
9. Lubianca Neto JF, Lu L, Eavey RD, et al. The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet 1998;62:1107-1112.