Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case
We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases we...
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Published in | American journal of medical genetics Vol. 47; no. 1; p. 20 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
United States
01.08.1993
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Subjects | |
Online Access | Get more information |
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Summary: | We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991]. |
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ISSN: | 0148-7299 |
DOI: | 10.1002/ajmg.1320470105 |