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Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.
Am J Med Genet. 2002 Jun 15; 110(2):179-81.AJ

Abstract

In 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition.

Authors+Show Affiliations

Department of Medical Genetics, CHU Pellegrin, Bordeaux, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12116258

Citation

Julia, Sophie, et al. "Association of External Auditory Canal Atresia, Vertical Talus, and Hypertelorism: Confirmation of Rasmussen Syndrome." American Journal of Medical Genetics, vol. 110, no. 2, 2002, pp. 179-81.
Julia S, Pedespan JM, Boudard P, et al. Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome. Am J Med Genet. 2002;110(2):179-81.
Julia, S., Pedespan, J. M., Boudard, P., Barbier, R., Gavilan-Cellie, I., Chateil, J. F., & Lacombe, D. (2002). Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome. American Journal of Medical Genetics, 110(2), 179-81.
Julia S, et al. Association of External Auditory Canal Atresia, Vertical Talus, and Hypertelorism: Confirmation of Rasmussen Syndrome. Am J Med Genet. 2002 Jun 15;110(2):179-81. PubMed PMID: 12116258.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome. AU - Julia,Sophie, AU - Pedespan,Jean Michel, AU - Boudard,Philippe, AU - Barbier,Richard, AU - Gavilan-Cellie,Isabelle, AU - Chateil,Jean François, AU - Lacombe,Didier, PY - 2002/7/13/pubmed PY - 2002/9/21/medline PY - 2002/7/13/entrez SP - 179 EP - 81 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 110 IS - 2 N2 - In 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12116258/Association_of_external_auditory_canal_atresia_vertical_talus_and_hypertelorism:_confirmation_of_Rasmussen_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=110&issue=2&spage=179 DB - PRIME DP - Unbound Medicine ER -