Barber-Say syndrome: further delineation of the clinical spectrum
Author
dc.contributor.author
Cortés, Fanny
Author
dc.contributor.author
Troncoso, Ledia
Author
dc.contributor.author
Alliende, R.
Author
dc.contributor.author
Curotto, Bianca
Admission date
dc.date.accessioned
2019-01-29T14:12:12Z
Available date
dc.date.available
2019-01-29T14:12:12Z
Publication date
dc.date.issued
2000
Cita de ítem
dc.identifier.citation
Genetics and Molecular Biology, 23, 2, 265-267 (2000)
Identifier
dc.identifier.issn
14154757
Identifier
dc.identifier.other
10.1590/S1415-47572000000200003
Identifier
dc.identifier.uri
https://repositorio.uchile.cl/handle/2250/160130
Abstract
dc.description.abstract
We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martinet Santana et al. including the same until then undescribed dermatoglyphic pattern.