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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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 47; no. 1; p. 20
Main Authors Martínez Santana, S, Pérez Alvarez, F, Frías, J L, Martínez-Frías, M L
Format Journal Article
LanguageEnglish
Published United States 01.08.1993
Subjects
Abnormalities, Multiple
Ectodermal Dysplasia
Female
Humans
Hypertrichosis - congenital
Infant, Newborn
Macrostomia
Syndrome
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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].
ISSN:0148-7299
DOI:10.1002/ajmg.1320470105