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Björnstad syndrome in a patient with mental retardation.
Genet Couns. 1998; 9(3):201-4.GC

Abstract

Björnstad syndrome in a patient with mental retardation: Pili torti or twisted hair can appear as an isolated defect, in association with other ectodermal defects, in association with other clinical features or can be acquired. Björnstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twisted hairs (pili torti). All patients with Björnstad syndrome reported thusfar have normal intelligence. We report on a patient with severe mental retardation and review the literature.

Authors+Show Affiliations

Center for Human Genetics, University Hospital Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9777342

Citation

Van Buggenhout, G, et al. "Björnstad Syndrome in a Patient With Mental Retardation." Genetic Counseling (Geneva, Switzerland), vol. 9, no. 3, 1998, pp. 201-4.
Van Buggenhout G, Trommelen J, Hamel B, et al. Björnstad syndrome in a patient with mental retardation. Genet Couns. 1998;9(3):201-4.
Van Buggenhout, G., Trommelen, J., Hamel, B., & Fryns, J. P. (1998). Björnstad syndrome in a patient with mental retardation. Genetic Counseling (Geneva, Switzerland), 9(3), 201-4.
Van Buggenhout G, et al. Björnstad Syndrome in a Patient With Mental Retardation. Genet Couns. 1998;9(3):201-4. PubMed PMID: 9777342.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Björnstad syndrome in a patient with mental retardation. AU - Van Buggenhout,G, AU - Trommelen,J, AU - Hamel,B, AU - Fryns,J P, PY - 1998/10/20/pubmed PY - 1998/10/20/medline PY - 1998/10/20/entrez SP - 201 EP - 4 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 9 IS - 3 N2 - Björnstad syndrome in a patient with mental retardation: Pili torti or twisted hair can appear as an isolated defect, in association with other ectodermal defects, in association with other clinical features or can be acquired. Björnstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twisted hairs (pili torti). All patients with Björnstad syndrome reported thusfar have normal intelligence. We report on a patient with severe mental retardation and review the literature. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/9777342/Björnstad_syndrome_in_a_patient_with_mental_retardation_ L2 - http://www.diseaseinfosearch.org/result/857 DB - PRIME DP - Unbound Medicine ER -