Auditory function in Duane's retraction syndrome.
ABSTRACT We obtained audiograms and auditory brainstem responses from 44 patients with Duane's retraction syndrome to assess the incidence and nature of hearing deficit. Of 44 patients, seven (15.9%) had evidence of hearing impairment. Three (6.8%) subjects had a temporary conductive hearing loss because of middle ear fluid, and another patient had hearing loss from Crouzon's disease. The remaining three (6.8%) patients demonstrated sensorineural hearing deficit. This hearing impairment was attributed to a cochlear lesion and not to a pontine lesion. We believe that the frequency of sensorineural hearing loss in these patients warrants hearing screening programs similar to those used for infants in neonatal intensive care units.
Article: Duane's syndrome.[Show abstract] [Hide abstract]
ABSTRACT: Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development.European Journal of Neurology 04/2000; 7(2):145-9. · 3.85 Impact Factor
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ABSTRACT: We aimed to investigate the origin of hearing loss with relevance to auditory brainstem responses and otoacoustic emissions in patients with Duane's retraction syndrome (DRS). 17 patients with DRS were included in the study. 14 patients were diagnosed as DRS type 1 and the remaining three as type 3. The control group consisted of nine healthy subjects. Pure tone audiogram, auditory brainstem response, as well as distortion product otoacoustic emissions were recorded in all the patients and the controls. Among the 17 patients with DRS, 15 demonstrated normal hearing according to pure tone audiogram. One patient with DRS had profound sensorineural hearing loss with a pure tone average of 110 dB, and one patient had moderate sensorineural hearing loss with a pure tone average of 60 dB. Auditory brainstem response latencies of the waves I, III and V, and interwave latencies were calculated in 15 patients with DRS and were compared with the control group. There was statistically significant increase in wave I latency of left ear in the DRS group compared to the controls (P<0.05). Amplitudes of distortion product otoacoustic emissions were also recorded at frequencies of 2, 3, 4, 6, and 8 kHz in both groups and the comparison of the DRS patients and controls revealed no statistically significant difference. We recommend auditory examinations be undertaken in patients with DRS by auditory brainstem response tests, as well as distortion product otoacoustic emissions, whereas all patients with normal results should be followed-up for future hearing loss.International Journal of Pediatric Otorhinolaryngology 08/2008; 72(8):1167-70. · 1.32 Impact Factor
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ABSTRACT: The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23-q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei.Transactions of the American Ophthalmological Society 02/2004; 102:373-89.