Trisomy 18. A temporal bone report.

Autor: Miglets AW, Schuller D, Ruppert E, Lim DJ
Jazyk: angličtina
Zdroj: Archives of otolaryngology (Chicago, Ill. : 1960) [Arch Otolaryngol] 1975 Jul; Vol. 101 (7), pp. 433-7.
DOI: 10.1001/archotol.1975.00780360033007
Abstrakt: Since Edwards first described the trisomy 17-18 syndrome in 1960, the findings in the temporal bones of only four patients with this condition have been reported. They varied widely, ranging from a normal temporal bone, to severe malformations of both the middle and inner ear structures. This study describes the temporal bone findings in a patient with this syndrome. Many of the abnormalities described previously were present as well as the following unreported findings: complete bony atresia of the external canal, an aberrant tensor tympani muscle that did not insert into the malleus but rather attached to a dehiscent area in the Fallopian canal, wide short utricular and saccular ducts, and a widely patent cochlear aqueduct. There was also a developmental arrest of the membranous structures within the cochlea that probably occurred during the 12th week of fetal life.
Databáze: MEDLINE