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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder

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Ullmann,  Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Haaf,  Thomas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Haensel, J., Kohlschmidt, N., Pitz, S., Keilmann, A., Zenker, M., Ullmann, R., et al. (2009). Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. American Journal of Medical Genetics Part A, 149(10), 2236-2240. doi:10.1002/ajmg.a.32993.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-7D04-F
Abstract
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis.