Barber-Say syndrome: further delineation of the clinical spectrum
| Author(s) : | L. Curotto Bianca R. Alliende Angأ©lica A. Troncoso Ledia M. Cortأ©s Fanny, |
| Publisher : | N/A |
| Publication Date : | 2000 |
| ISSN : | N/A |
| 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 MartØ£Ânez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern., |