Temporal Bone Pathology in Cornelia de Lange Syndrome

Abstract

This is the second case report describing the histologic findings of the temporal bone in Cornelia de Lange syndrome in the English literature.

Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome

“…As in CdLS, and in Nipbl -heterozygous mice [21], Nipbl-deficient fish also exhibit growth retardation and distinctive craniofacial abnormalities (Figures 2C and S5), the latter including severe reductions of the hyosymplectic cartilage, the homologue of the mammalian stapes [70]. Abnormal development of the stapes and other middle ear bones is reported in CdLS [71], and our results suggest that defects in embryonic development of the precursors of these bones could account for some aspects of hearing loss in CdLS [16],[17] and in Nipbl -heterozygous mice [21].…”

Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

“…Five case series reported on middle ear anomalies . Ossicular chain anomalies affected 57.2% (42.3–72.1) of patients .…”

“…Recurrent respiratory infections, including pneumonitis and bronchitis, were also prevalent and present in 44.1% (95% CI: 11.0–87.1) of patients (Appendix 2). Two case series reported on rhinosinusitis disease affecting 36.1% (95% CI: 26.4–45.7) of patients …”

Temporal Bone CT Findings in Cornelia de Lange Syndrome

“…16,17 Findings in these studies included short cochlea, dilated vestibule, residual mesenchyme in the perilymphatic spaces of the vestibule and semicircular canals, abnormal intrusion of vestibular ganglion cells into the facial nerve, presence of spiral ganglion cells in the internal auditory canal, loose curve of the facial nerve around the geniculum, middle ear filled with mesenchyme, and dehiscence of the facial nerve. In addition, Yamanobe and Ohtani 16 described the deformed ossicle, including elongation of the anterior process of the malleus and a large incus body with a central marrow space. These findings are well correlated with our temporal bone CT findings, especially with respect to middle ear opacification, dysmorphic ossicle, hypoplastic cochlea, and facial nerve dehiscence.…”

“…Although a few genes, such as NIPBL and SMC1L1, are currently known to be associated with Cornelia de Lange syndrome, 12,13 its diagnosis mainly depends on the recognition of the characteristic pattern of delayed growth with associated malformations, particularly the distinctive craniofacial features. 14,15 Some reports have described the audiologic evaluation and histopathology of the temporal bone in children with Cornelia de Lange syndrome, 16,17 but the CT findings in children with the syndrome have not been reported. Therefore, the purposes of this study were to report the characteristic findings of temporal bone CT in patients with Cornelia de Lange syndrome and to correlate audiometric data with radiologic findings in these patients.…”