Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?
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.
Linssen
W H
WH
Department of Neurology, St Lucas Hospital, Amsterdam, The Netherlands.
Van den Bent
M J
MJ
Brunner
H G
HG
Poels
P J
PJ
D000015:Abnormalities, Multiple / Q000145:classification*; D000567:Amelogenesis Imperfecta; D003638:Deafness; D005192:Family Health; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies; D006801:Humans; D007223:Infant; D008297:Male; D010053:Ovary / Q000002:abnormalities; D013577:Syndrome