A Histological Study of the Temporal Bones and the Nose in Wolf-Hirschhorn Syndrome

Histopathological Basis of Hearing Impairment in Wolf‐Hirschhorn Syndrome

“…During the latter stages of ossicular development the growing bone of the neck region apparently came to fully enclose the chorda tympani nerve. The anomalies of the ossicular chain and chorda tympani documented in the present study, together with temporal bone abnormalities reported by Iino et al, 13 provide evidence of the defective development of the middle ear structures in Wolf‐Hirschhorn syndrome.…”

“…Although a number of reports have dealt with clinical aspects of Wolf‐Hirschhorn syndrome, the authors are aware of only one previous report relating to temporal bone histopathology in the disorder. In that report, Iino et al 13 described middle ear effusion, epidermal cyst, malformation of the incus and the head of malleus, absence of the stapes and oval window, and an abnormal course of the facial nerve in a 9‐month‐old infant. Similarly, we found evidence of chronic otitis media, malformation of the malleus with abnormal course of chorda tympani nerve, and loss of outer hair cells in the basal turn of the cochlea in the case reported in the present study.…”

“…To date, temporal bone histopathological findings have been reported in only one case, in which middle and inner ear defects were described 13 . Whether structural abnormalities of the middle and inner ear consistently occur in this disorder has not yet been established.…”

Temporal bone histopathologic findings in partial trisomy 13 and partial trisomy 14

“…Stapes abnormalities previously reported in trisomy 13 include bulky stapes, thick crura and footplate, and more central attachment of the anterior and posterior crura to the footplate [5]. The facial nerve canal dehiscence which was observed in our case also occurs in trisomy 13 and other chromosomal aberrations such as trisomy 21, trisomy 22, and 4pÀ [5,[8][9][10][11][12][13][14][15]. Other middle ear abnormalities including small facial nerve, persistence of the stapedial artery, wide angle of the facial genu, and absence of the pyramidal eminence described in trisomy 13 were not observed in the present case.…”

“…Studying the temporal bones of patients with chromosomal disorders provides an opportunity to identify the association of certain ear anomalies with specific chromosomal abnormalities. Ear anomalies affecting the external, middle, and inner ear have been documented in temporal bone studies of patients with chromosomal disorders such as trisomy 13 (Patau Syndrome) [2][3][4][5], trisomy 18 (Edwards Syndrome) [6,7], trisomy 21 (Down Syndrome) [8][9][10][11], trisomy 22 [12], 4pÀ (Wolf-Hirschhorn Syndrome) [13][14][15], and Turner Syndrome [16,17]. The nature and extent of ear anomalies vary according to the particular chromosomal aberration that may be present.…”