2018-02-01
Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element
Publication
Publication
Short case report
Clinical Dysmorphology , Volume 27 - Issue 2 p. 58- 62
Blepharophimosis–ptosis–epicanthus inversus syndrome [BPES (OMIM#110100)] is a rare autosomal dominant condition characterized by the following four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus (Oley and Baraitser, 1988).
Two types of BPES have been recognized to date.
Type 1 is characterized by these eyelid malformations together with premature ovarian failure (POF).
Type 2 is characterized by the eyelid malformations without additional features (Zlotogora et al., 1983). [...]
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| doi.org/10.1097/MCD.0000000000000216, hdl.handle.net/1765/105543 | |
| Clinical Dysmorphology | |
| Organisation | Department of Clinical Genetics |
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Bouman, A., van Haelst, M., & van Spaendonk, R. (2018). Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element. Clinical Dysmorphology, 27(2), 58–62. doi:10.1097/MCD.0000000000000216 |
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