Labyrinthine anomalies in trisomy 13 mosaicism.
The temporal bone histopathology of a 2-month-old male with a bilateral cleft palate, cleft lip and polydactylia due to trisomy 13 mosaicism was studied. Anomalies in the ear involved a partial absence of the superior semicircular canal, an abnormally wide lateral semicircular canal, underdeveloped cochlear coils, an abnormally broad modiolus, an undeveloped organ of Corti and an underdeveloped basilar membrane in the basal turn of the cochlea, an unusually wide cochlear aqueduct, and deformed stapedial crura.
D000328:Adult; D002901:Chromosomes, Human, 13-15; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D007758:Ear, Inner / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D013701:Temporal Bone / Q000473:pathology; D014314:Trisomy