The Campomelic Syndrome: Temporal Bone Histopathologic Features and Otolaryngologic Manifestations

Temporal bone histopathological findings in campomelic dysplasia

“…What should be emphasized first is that these findings are strikingly similar to those in the only previous temporal bone histopathological report of this syndrome (Tokita et al, 1979). The only differences are the paucity of spiral ganglion cells and an anomaly in the pyramidal eminence and stapedial tendon in the previously reported case but not in ours.…”

“…Futhermore, the non-ampullated portion of the anterior SCC was dislocated to the subdural space of the posterior fossa; this cannot be the result solely of compression by the abnormal area of cartilaginous tissue, and may represent another aspect of abnormal development of the otic capsule in this case. Others have described the pathogenesis of the long bone deformity seen in the disease (Bain and Barrett, 1959;Lee et al, 1972;Hwang, 1979;Tokita et al, 1979;Nogami et al, 1986;Lazjuk et al, 1987) as being related to the cartilaginous phase of the development of the bone, and the abnormal cartilaginous tissue in the otic capsule in the case we report supports this hypothesis.…”

“…For instance; we may expect mixed-type hearing loss in patients with this syndrome; the conductive component would be due to anomalies of the ossicles and to frequent otitis media, to which patients with this syndrome are quite susceptible because they have frequent upper respiratory infections (Houston et al, 1983;Gillerot et al, 1989) and often have a cleft palate, and the sensorineural component would be due to hypoplasia of the cochlea. Discrepancy in the spiral ganglion cell population between our case and those reported by Tokita et al (1979) indicates that the severity of the sensorineural component may vary from individual to individual, but it should be kept in mind when examining for and managing the hearing loss in patients with this syndrome.…”

Manifestações otorrinolaringológicas na Displasia Campomélica: relato de caso.

“…13 Porém, o estreitamento dele não foi descrito entre os achados de exames histopatológicos de indivíduos com essa síndrome. 20,22 No entanto, até onde se estendeu a nossa pesquisa, não encontramos descrição na literatura de tal manifestação à nível do osso temporal, fazendo a descrição desse aspecto da DC um relato inédito na literatura. Provavelmente isso se deve ao fato de que pouquíssimos pacientes com DC sobrevivem até a idade do paciente em questão.…”

Long‐term consequences of Sox9 depletion on inner ear development

“…Patients affected by this condition usually die after birth due to respiratory distress. However, patients that survived through adolescence and adulthood are often affected by sensorineural deafness, and in some rare cases exhibited malformations of the cochlear duct (Tokita et al, 1979; Houston et al, 1981; Savarirayan et al, 2003). Our finding using Xenopus are consistent with a critical role of Sox9 in inner ear formation, but also highlights some differences across species in the relative importance of Sox9 in the development of specific components of the inner ear.…”