Perrault's syndrome in two sisters

Bösze, P; Skripeczky, K.; Gaál, Magdolna; Tóth, András; László, J.

doi:10.1002/ajmg.1320160213

Cited by 12 publications

(9 citation statements)

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“…In a report by Bosze et al, 8 body proportions was reported in two siblings. The heights were 160 and 162 cm, arm spans were 162 and 164 cm and US:LS ratios were 0.76:1 and 0.78:1 respectively.…”

Section: Discussionmentioning

confidence: 90%

Perrault Syndrome with Marfanoid Habitus in Two Siblings

Jacob

Paul

Mathews

et al. 2007

Journal of Pediatric and Adolescent Gynecology

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Section: Discussionmentioning

confidence: 90%

Perrault Syndrome with Marfanoid Habitus in Two Siblings

Jacob

Paul

Mathews

et al. 2007

Journal of Pediatric and Adolescent Gynecology

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“…Short stature and variable mental retardation were also reported [Christakos et al, 1969;Perez-Ballester et al, 1970;Pallister and Opitz, 1979;Bösze et al, 1983;McCarthy and Opitz, 1985;Nishi et al, 1998]. Recently, Linssen et al [1994] and Gottschalk et al [1996] focused on the neurological signs in patients with Perrault syndrome (PS).…”

Section: Introductionmentioning

confidence: 94%

Perrault syndrome: Evidence for progressive nervous system involvement

Fiumara

Sorge

Toscano

et al. 2004

American J of Med Genetics Pt A

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Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non-progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal-cerebellar degeneration.

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“…Since then, 17 patients with Perrault syndrome have been described [Christakos et al, 1969;Perez-Ballester et d., 1970;Pallister and Opitz, 1979;Granat et al, 1979;Bosze et al , 1983;McCarthy and Opitz et al, 19851. Here we report an additional two cases, sisters with this syndrome.…”

Section: Introductionmentioning

confidence: 98%

The Perrault syndrome: Clinical report and review

et al. 1988

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We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They also had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. One older affected sister had partial growth hormone deficiency. Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysgenesis and deafness, 3 deaf males without gonadal defect, one a woman with ovarian dysgenesis without deafness, and one a girl with deafness in whom ovarian function was not evaluated. Perrault syndrome may not be uncommon; some cases may have gone unrecognized, especially when a single child in a family is affected.

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Perrault's syndrome in two sisters

Cited by 12 publications

References 1 publication

Perrault Syndrome with Marfanoid Habitus in Two Siblings

Perrault Syndrome with Marfanoid Habitus in Two Siblings

Perrault syndrome: Evidence for progressive nervous system involvement

The Perrault syndrome: Clinical report and review

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