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Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases
Author(s) -
Murano I.,
Ohashi H.,
Tsukahara M.,
Tonoki H.,
Okino F.,
Atsumi M.,
Kajii T.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb02988.x
Subject(s) - kyphoscoliosis , trisomy , mosaic , nose , medicine , dermatology , biology , anatomy , genetics , scoliosis , surgery , history , archaeology
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, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non‐mosaic trisomy 18 for pigmentary dysplasias.