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Biomedical subjects

M J Hageman

Publications and source records attributed to M J Hageman.

25 records · Page 2Linked to original sources

Vestibular findings in 25 patients with Waardenburg's syndrome.

Vestibular pathology does not seem to occur more frequently in patients with Waardenburg's syndrome than in those suffering from other types of congenital deafness. This was concluded from the results of vestibular examination by means of electronystagmography of 25 subjects with Waardenburg's syndrome from five families in the Netherlands. Ten of these subjects had a hearing loss, four of them bilateral and six unilateral. A review of the literature concerning more than 1,000 cases with Waardenburg's syndrome shows that in only 26 deaf patients was a very simple vestibular examination performed (in only three patients by means of electronystagmography).

Abnormalities, Multiple↗

Audiometric findings in 34 patients with Waardenburg's syndrome.

The dominant hereditary form of deafness as part of Waardenburg's syndrome was found in 12 (35%) of 34 patients never previously described with Waardenburg's syndrome among 5 families in the Netherlands. Extensive audiometric examination could be performed in 11 patients, 5 patients with deafness on both sides and 6 patients with hearing deficiency on one side. The hearing loss could be divided into 4 types: (type I) (sub) total deafness on both sides; (type II) serious lack of hearing on both sides; (type III) (sub) total deafness on one side; (type IV) moderate hearing deficiency on one side, particularly in the low frequencies. An extensive review was made of the more than 1,000 patients with Waardenburg's syndrome described in the literature. This revealed that deafness in both ears (the most serious expression of the syndrome) occurred in about 25% of the patients with Waardenburg's syndrome type I (including dystopia canthorum) and in 50% of the patients with Waardenburg's syndrome type II (without dystopia canthorum). This striking difference is connected with the close relationship between deafness and pigmentary disorders.

Abnormalities, Multiple↗

Heterogeneity in Waardenburg syndrome.

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling.

Abnormalities, Multiple↗

Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome.

The tomographic findings in the Stenvers' projection of inner ears of 24 patients with Waardenburg's syndrome are described. In 12 of these 48 inner ears deafness was found. The roentgenographic examination did not show any malformation of the inner ears of these patients. In the literature on this subject, the tomographic findings of the inner ears of 12 deaf patients with Waardenburg's syndrome have been described. In 8 of them malformations were reported, especially of the semicircular canals. These findings in the literature could not be confirmed by our study.

Abnormalities, Multiple↗

Ophthalmological findings in 34 patients with Waardenburg syndrome.

In the Netherlands five families with 34 previously unreported patients with Waardenburg syndrome were traced. Twenty-three patients with the syndrome including dystopia canthorum (Type I) were ophthalmologically examined and three patients with the syndrome without dystopia canthorum (Type II) were also examined. Ten of the 15 patients with pigmentary disorders of the iris also showed a shortage of pigment in the retina. Convergent strabismus occurred in an higher percentage of the examined patients (19%) than in the normal population (4-5%).

Abnormalities, Multiple↗