Barber-Say syndrome: further delineation of the clinical spectrum
2000 ◽
Vol 23
(2)
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pp. 265-267
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Keyword(s):
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.
2014 ◽
Vol 51
(6)
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pp. 729-734
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2013 ◽
Vol 161
(8)
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pp. 2115-2116
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1999 ◽
Vol 54
(5)
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pp. 147-150
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1984 ◽
Vol 19
(2)
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pp. 255-264
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2012 ◽
Vol 97
(Suppl 2)
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pp. A161-A161
2018 ◽
2008 ◽
Vol 6
(4)
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pp. 237-246
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2007 ◽
Vol 143A
(19)
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pp. 2221-2226
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