Total: 2 |
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PMID (PMCID) | ||
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30450715 |
OTHER | |
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. | ||
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K. Am J Med Genet A. 2018;176(12):2777-2780. |
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Sweeney-Cox syndrome, Barber-Say syndrome, and ablepharon-macrostomia syndrome share the facial features of ablepharon, hypertelorism, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth. | ||
19760652 |
FEMALE | Child |
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. | ||
Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O. Am J Med Genet A. 2009;149A(10):2236-40. |
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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). |