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Genetics and Molecular Biology

Print version ISSN 1415-4757On-line version ISSN 1678-4685


CORTES, Fanny M.; TRONCOSO, Ledia A.; ALLIENDE, Angélica R.  and  CUROTTO, Bianca L.. Barber-Say syndrome: further delineation of the clinical spectrum. Genet. Mol. Biol. [online]. 2000, vol.23, n.2, pp.261-264. ISSN 1415-4757.

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 Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.

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