Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears

Swinnen, Freya; Leenheer, Els De; Coucke, Paul; Cremers, C.W.R.J.; Dhooge, Ingeborg

doi:10.1159/000336211

Cited by 21 publications

(12 citation statements)

References 54 publications

(59 reference statements)

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“…In 10 ears, stapes surgery had been performed before CT evaluation. Short‐ and long‐term results of surgery in these ears have been described previously . In the 33 evaluated OI ears, normal hearing (6.1%), conductive hearing loss (12.1%), mixed hearing loss (60.6%), sensorineural hearing loss (6.1%), and deafness (15.1%) were observed.…”

Section: Resultsmentioning

confidence: 73%

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss

et al. 2013

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Objectives/Hypothesis Osteogenesis imperfecta (OI) is an autosomal‐dominant connective‐tissue disorder, predominantly characterized by bone fragility. Conductive hearing loss develops in half of the OI patients and often progresses to mixed loss. Findings of computed tomography (CT) and magnetic resonance (MR) imaging of the temporal bone in the largest series of OI patients to date are presented and correlated with the audiograms. Study Design Retrospective case series. Methods CT images and audiograms of 17 hearing‐impaired OI patients, aged 9 to 67 years, were analyzed retrospectively. In four patients, MR imaging was performed as well. Imaging abnormalities were correlated with type and severity of hearing loss deduced from the audiograms. Results CT revealed fenestral hypodense foci in the fissula ante fenestram (25 of 33 ears), oval window (23 of 33 ears), and round window (20 of 33 ears). Retrofenestral hypodensities were observed, affecting the cochlear turns (16 of 33 ears), facial nerve canal (10 of 33 ears), or semicircular canals (6 of 33 ears), or appearing like the fourth turn of the cochlea (11 of 33 ears). The site of hypodensities corresponded to the type of hearing loss in 72.2% of the OI ears. The air‐bone gap and bone‐conduction thresholds showed significant positive associations with the number of affected fenestral (P < .05) and retrofenestral structures (P < .01), respectively. Gadolinium‐enhanced MR images demonstrated active lesions in three patients with mixed hearing loss or deafness. Conclusions The site of hypodensities on temporal bone CT images in OI corresponds to presence and type of hearing loss determined by audiometry. The more severe the hearing loss, the more affected temporal bone structures in OI. Level of Evidence 4. Laryngoscope, 123:1988–1995, 2013

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Section: Resultsmentioning

confidence: 73%

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss

et al. 2013

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“…Stapedectomy provides restoration of conductive loss in long-term follow-up. 114 Skull base abnormalities, including platybasia, basilar invagination, and basilar impression, are prevalent in patients with height Z score less than −3. 115 Basilar impression, in which the foramen magnum rim folds into the skull, is the most serious neurological complication of the disorder.…”

Section: Medical Management Of Osteogenesis Imperfectamentioning

confidence: 99%

Osteogenesis imperfecta

2016

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Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.

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“…The titles were initially screened for inclusion resulting in further consideration of 485 publications. After screening of abstracts and then full‐text articles, 153 articles were selected for inclusion …”

Section: Resultsmentioning

confidence: 99%