Bjornstad syndrome in a patient with mental retardation

Genetic Counseling

Volumn 9, Issue 3, 1998, Pages 201-204

  Van Buggenhout, G ^a   Trommelen, J ^b   Hamel, B ^c   Fryns, J P ^a,d  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Inst for Mentally Retarded Patients   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Bjornstad syndrome; Hearing loss; Mental retardation; Pili torti

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DEAFNESS; CYTOGENETICS; HAIR DISEASE; HUMAN; MALE; MEDICAL LITERATURE; MENTAL DEFICIENCY; HAIR; MIDDLE AGED; PATHOLOGY; PERCEPTION DEAFNESS; SYNDROME;

HAIR; HAIR DISEASES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; SYNDROME;

EID: 0031595379     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. BJÖRNSTAD R.T.: Pili torti and sensorineural loss of hearing. Proc. Fenno-Scand. Ass. Derm., 1965, 3. (Quoted from Scott M.J. Jr., Bronson D.M., Burton Esterly N.: Björnstad syndrome and pili torti. Pediatr. Dermatol., 1983. 1, 45-50.)
2. BJÖRNSTAD R.T.: Pili torti and sensorineural loss of hearing. Proc. Fenno-Scand. Ass. Derm., 1965, 3. (Quoted from Scott M.J. Jr., Bronson D.M., Burton Esterly N.: Björnstad syndrome and pili torti. Pediatr. Dermatol., 1983. 1, 45-50.)
3. CREMERS C.W.R.J. and GEERTS S.J.: Sensorineural hearing loss and pili torti. Ann. Otol. Rhinol. Laryngol., 1979, 88, 100-104.
4. EGELUND E. and FRENTZ G.: A case of hyperkeratosis palmoplantaris striata combined with pili torti, hypohidrosis, hypodontia and hypoacusis. Acta Otolaryngol., 1982, 94, 571-573.
5. GORLIN R.J., TORIELLO H.V. and COHEN M.M. Jr. Hereditary Hearing Loss and its Syndromes. Oxford University Press, New York, 1995, 397-398.
6. MENKES J.H., ALTER M., STEIGLEDER K.K., WEAKLEY B R. and SUNG J.H.: A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatr., 1962, 29, 764-779.
7. PETIT A., DONTENWILLE M.M., BLANCHET BARDON C. and CIVATTE J.: Pili torti with congenital deafness (Björnstad's syndrome) - report of three cases in one family, suggesting autosomal dominant transmission. Clin. Exp. Dermatol., 1993, 18, 94-95.
8. REED W.B., STONE V.M., BODER E. and ZIPRKOWSKI L.: Hereditary syndromes with auditory and dermatological manifestations. Arch. Dermatol., 1967, 95, 456-461.
9. ROBINSON G.C. and JOHNSON M.M.: Pili torti and sensory neural hearing loss. Pediatrics, 1967, 70, 621-623.
10. SCOTT M.J. JR., BRONSON D.M. and BURTON ESTERLY N.: Björnstad syndrome and pili torti. Pediatr. Dermatol., 1983, 1, 45-50.
11. VOIGTLÄNDER V.: Pili torti with deafness (Bjornstad syndrome). Report of a family. Dermatologica, 1979, 159, 50-54.