Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases.

Abstract

We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosaic or non-mosaic trisomy 18. In addition… (More)

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@article{Murano1991PigmentaryDI, title={Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases.}, author={Ichiro Murano and H. Ohashi and Masatoshi Tsukahara and Haruka Tonoki and Fujio Okino and Masahide Atsumi and Tadashi Kajii}, journal={Clinical genetics}, year={1991}, volume={39 1}, pages={68-74} }