Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?

Abstract

We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome.

• Authors: W H Linssen, M J Van den Bent, H G Brunner, P J Poels
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 51 Issue 1 Pg. 81-2 (May 15 1994) ISSN: 0148-7299 [Print] United States
• PMID: 8030674 (Publication Type: Journal Article)

Topics

• Abnormalities, Multiple (classification)
• Amelogenesis Imperfecta
• Deafness
• Family Health
• Female
• Hereditary Sensory and Autonomic Neuropathies
• Humans
• Infant
• Male
• Ovary (abnormalities)
• Syndrome