TY - JOUR
T1 - Inner ear anomalies in two cases of trisomy 18
AU - Wright, Charles G.
AU - Brown, O. E.
AU - Meyerhoff, William L.
AU - Rutledge, Joe C.
N1 - Funding Information:
Developmental defects of the temporal bone have been described in three autosomal trisomy syndromes--trisomy 13, 14, or 15 (D trisomy), trisomy 17 or 18 (E trisomy), and trisomy 21 or 22 (Down's syndrome). ~-3 Individuals with these disorders have a wide variety of congenital anomalies. 4 Although considerable variation in temporal bone pathology has been reported among individuals with the syndromes, a somewhat different pattern of ear defects tends to be present in each type of trisomy. 5's It seems unlikely, however, that the full spectrum of possible temporal bone abnormalities has yet been described for any of these disorders. This is especially true for Down's syndrome and trisomy 17 or 18. This report describes temporal bone defects found in two cases of trisomy 18. The material was evaluated using a combination of methods, including microdissection, scanning electron microscopy, and serial sectioning. Both cases nolaryngology( Drs. Wright, Brown. and Meyerhoff),a nd the Department of Pathology( Dr. Rutledge), University of Texas Health Science Center at Dallas, Dallas, Texas. Accepted for publication May 20, 1985. This investigation was supported by National Institutes of Health research grant NS19767. Address correspondence and reprint requests to Dr, Wright: Collier Center, 1966 Inwood Road, Dallas TX 75235.
PY - 1985
Y1 - 1985
N2 - Two cases of trisomy 18 in which temporal bone defects were limited to the inner ears are described. Several abnormalities were present that have not been described previously in this syndrome. The first case involved a 1-month-old female infant who died of congenital heart defects. Cochlear nerve fibers were absent on the left side, with near-normal innervation on the right. Although the organ of Corti was present bilaterally, some of the outer hair cells were deformed, having small rounded cell bodies unsupported by Deiters' cells. On the right similar abnormal cells were found in the tunnel of Corti. Vestibular defects in this case included reduced nerve supply of the left saccular macula, cysts in the superior and posterior cristae, and absence of the utriculoendolymphatic valve. The second case involved a newborn male infant with multiple congenital anomalies. The major cochlear defect was a deformity of the stria vascularis. In the lower apical turn, the stria was adherent to Reissner's membrane and extended beneath it into scala media. Large capillaries which ran freely suspended in scala vestibuli, entered the upper portion of the stria. Severe atresia of the lateral and posterior semicircular ducts was found in the vestibular apparatus.
AB - Two cases of trisomy 18 in which temporal bone defects were limited to the inner ears are described. Several abnormalities were present that have not been described previously in this syndrome. The first case involved a 1-month-old female infant who died of congenital heart defects. Cochlear nerve fibers were absent on the left side, with near-normal innervation on the right. Although the organ of Corti was present bilaterally, some of the outer hair cells were deformed, having small rounded cell bodies unsupported by Deiters' cells. On the right similar abnormal cells were found in the tunnel of Corti. Vestibular defects in this case included reduced nerve supply of the left saccular macula, cysts in the superior and posterior cristae, and absence of the utriculoendolymphatic valve. The second case involved a newborn male infant with multiple congenital anomalies. The major cochlear defect was a deformity of the stria vascularis. In the lower apical turn, the stria was adherent to Reissner's membrane and extended beneath it into scala media. Large capillaries which ran freely suspended in scala vestibuli, entered the upper portion of the stria. Severe atresia of the lateral and posterior semicircular ducts was found in the vestibular apparatus.
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U2 - 10.1016/S0196-0709(85)80018-1
DO - 10.1016/S0196-0709(85)80018-1
M3 - Article
C2 - 3878100
AN - SCOPUS:0022379690
SN - 0196-0709
VL - 6
SP - 392
EP - 404
JO - American Journal of Otolaryngology--Head and Neck Medicine and Surgery
JF - American Journal of Otolaryngology--Head and Neck Medicine and Surgery
IS - 5
ER -