Quiz case 2

Archives of Otolaryngology - Head and Neck Surgery

Volumn 126, Issue 1, 2000, Pages 95-97

  Hidalgo, A ^a   Martinez, M ^a   Pernas, J C ^a  

^a HGU Vall d‘Hebron ^*  (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; HUMAN; IMAGE ANALYSIS; MALE; PATHOLOGICAL ANATOMY; SCHOOL CHILD;

BRANCHIO-OTO-RENAL SYNDROME; CHILD; HUMANS; MALE; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0033954311     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0720-048X(98)00120-X     Document Type: Article

References (10)

1. Ascherson FM. De fistullis colli congenitis adjecta fissurarum branchialium in mammalibus avibusque historira succinata. Berolini: Joness; 1832:22-30.
2. Paget J. Cases of branchial fistulae in the external ears. Lancet. 1877;2:804-810.
3. Fourman P, Fourman J. Hereditary deafness in family with ear pits (fistula auris congenita). BMJ. 1955;2:1354-1356.
4. Rowley PT. Familial hearing loss associated with branchial fistulas. Pediatrics. 1969;44:978-985.
5. Melnick M, Bixler D, Silk K, Yune H, Nance WE. Autosomal Dominant Branchiootorenal Dysplasia. White Plains, NY: March of Dimes Birth Defects Foundation; 1975;11:1212-1228.
6. Ni L, Wagner MJ, Kimberling WJ, et al. Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. Am J Med Genet. 1994; 51:176-184.
7. Everett LA, Glaser B, Beck JC. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997;17:411-422.
8. Chen A, Francis M, Ni L, et al. Phenotypic manifestations of branchiootorenal syndrome. Am J Med Genet. 1995;58:365-370.
9. Fitch N, Lindsay JR, Srolovitz H. The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. Ann Otol Rhinol Laryngol. 1976;85:268-275.
10. Weiss RL, Zahts G, Goldovsky E, Parnes H, Shikowitz MJ. High jugular bulb and conductive hearing loss. Laryngoscope. 1997;107:321-327.