ALLMedicine™ Blepharophimosis Center

May 3rd, 2022 - - Population of study & disease condition: Congenital ptosis with poor levator muscle function. - Study setting: The ophthalmology unit of Abuelreesh Children Hospital. - Inclusion criteria: Criteria for inclusion in this study will be children mo...

Mar 1st, 2022 - Van den Ende-Gupta syndrome (VDEGS) (MIM#600920) is characterized by skeletal and craniofacial abnormalities that include prominent ears, downslanting palpebral fissures, blepharophimosis, hypoplastic maxilla with or without a cleft palate, a narr...

Jan 6th, 2022 - Background Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different inherited, autosomal recessive conditions, sometimes termed SJS type I and SJS type II. Both are very rare. SJS type I has 2 recognized subtypes, IA and IB, which are s...

Nov 3rd, 2021 - FOXL2 encodes a transcription factor that regulates a wide array of target genes including those involved in sex development, eyelid development, ovarian function and maintenance, genomic integrity as well as cellular pathways such as cell-cycle p...

Oct 30th, 2021 - FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BPES solely features eyelid abnormality, type I BPES involves not only eyelid but also ovary, leading to primary ovarian insufficiency ...

May 3rd, 2022 - - Population of study & disease condition: Congenital ptosis with poor levator muscle function. - Study setting: The ophthalmology unit of Abuelreesh Children Hospital. - Inclusion criteria: Criteria for inclusion in this study will be children mo...

Sep 14th, 2011 - Clinical Presentation A 16-month-old girl presented to the eye clinic for evaluation of her eyelids, which had been droopy since birth. Her mother stated that the child was healthy but has always preferred to lift her chin up in order to see. The ...

Sep 14th, 2011 - Clinical Presentation A 16-month-old girl presented to the eye clinic for evaluation of her eyelids, which had been droopy since birth. Her mother stated that the child was healthy but has always preferred to lift her chin up in order to see. The ...

Sep 14th, 2011 - Clinical Presentation A 16-month-old girl presented to the eye clinic for evaluation of her eyelids, which had been droopy since birth. Her mother stated that the child was healthy but has always preferred to lift her chin up in order to see. The ...