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Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis.

Y Zhang, WW Kao, E Pelosi… - Journal of cell …, 2011 - ncbi.nlm.nih.gov
... mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation,
leading to congenital blepharophimosis. ... haploinsufficiency of FOXL2 in humans, which results
in type II BPES (blepharophimosis, ptosis and epicanthus inversus syndrome). ...
All 2 versions

Increased Levator Muscle Function by Supramaximal Resection in Patients With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

CE Decock, AD Shah, C Delaey… - Archives of …, 2011 - Am Med Assoc
... ABSTRACT Objective To study the efficacy and clinical and anatomical results of supramaximal
levator resection in patients with blepharophimosis-ptosis–epicanthus inversus syndrome
(BPES) with severe congenital ptosis with poor levator function (LF). ...

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

P De Jonghe, MJ Dixon, KM Georgas… - Human …, 2011 - espace.library.uq.edu.au
... 3q23. Thr ee congenital disorders have been localised to this region: blepharophimosis-
ptosis-epicanthus inversus syndrome (BPES), Charcot-Maric-Tooth neuropathy type
IIB (CMT2B) and Mobius syndrome type 2 (MBS2). We ...
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Congenital Ptosis

EJ Wladis… - Evaluation and Management of Blepharoptosis, 2011 - Springer
... In cases of myogenic congenital ptosis, spe- cial consideration should be given to the patient's
external appearance, as it may yield clues as to a possible underlying cause [2]. Specifically,
the blepharophimosis syndrome is characterized by severe ptosis, telecanthus ...
Related articles - All 2 versions

… of 3q22. 3-q25. 2 Encompassing FOXL2, ATR, ZIC1, and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome, Dandy-Walker Malformation, …

BC Lim, WY Park, EJ Seo, KJ Kim… - Journal of Child …, 2011 - jcn.sagepub.com
... malformation and global development delay were present. Blepharophimosis, ptosis,
epicanthus inversus syndrome is a rare but well-characterized congenital anomaly of
the palpebral fissure. FOXL2 is the only known causative gene ...
Related articles - All 3 versions

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