Abstract
This study characterized phenotypic anomalies of the eustachian tube (ET) and its associated structures in individuals with various chromosomal aberrations (trisomies 13, 18, 21, and 22 and inversion of chromosome 1). The morphological characteristics of the ET and its accessory structures from 10 temporal bone-ET specimens, obtained from 10 individuals with chromosomal aberrations who ranged from the 26th gestational week to 1 year in age, were compared with the same structures from 21 age-matched control subjects without anomalies. The subjects with chromosomal aberrations had a significantly smaller volume of the lateral lamina (LL) of the ET cartilage, a reduced attachment of the tensor veli palatini muscle (TVPM), and, in some cases, a reduced volume of the lumen of the cartilaginous ET. The volume of the medial lamina (ML) of the ET cartilage was normal at birth, but smaller in specimens more than 2 months of age; this finding suggests that the prenatal development was normal, but that the postnatal growth was retarded. The subjects with chromosomal aberrations also displayed a smaller ratio of the volume of the LL to that of the ML (LL/ML ratio). Our results suggest that individuals with various chromosomal aberrations have rather similar anomalies of the ET and its associated structures. We speculate that these anomalies might be closely related to ET dysfunction in these patients.
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