Results 41 to 50 of about 3,428 (220)

Factors related to amblyopia in congenital ptosis after frontalis sling surgery

BMC Ophthalmology, 2018
Background Amblyopia is a main concern in children undergoing frontalis sling surgery for repairing congenital ptosis. This study aimed to evaluate factors related to amblyopia in children undergoing frontalis sling surgery.
Youn-Shen Bee, Pei-Jhen Tsai, Muh-Chiou Lin, Ming-Ying Chu   +3 more
doaj   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

Indian Journal of Ophthalmology, 2016
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus.
Vasudha Kemmanu, Pragnya Rathod, Hemant Anaspure, Naresh K Yadav   +3 more
doaj   +1 more source

Waardenburg or Blepharophimosis ptosis epicanthus inversus syndrome? – An enigmatic riddle

Kerala Journal of Ophthalmology
Waardenburg syndrome (WS) is a genetic disorder that may be discernible right at birth. The syndrome is well known to have heterogeneous expression; the range, and severity of which may vary greatly from case to case, even among the individuals of the ...
Deepsekhar Das, Mandeep S. Bajaj, Parag Tyagi, Saloni Gupta, Sahil Agrawal   +4 more
doaj   +1 more source

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome

Science Progress, 2020
The purpose of this study was to evaluate the functional and cosmetic outcomes of a new modified Fox pentagon technique performed using polytetrafluoroethylene in frontalis suspension surgery for blepharophimosis syndrome.
Yuan Wang, Qian Wu, Li Li, Wen Liu, Cheng Li, Yunwei Fan, WenHong Cao, Ningdong Li   +7 more
doaj   +1 more source

Saethre-Chotzen syndrome : cranofacial anomalies caused by genetic changes in the TWIST gene [PDF]

, 2004
In this thesis, one of the most frequently occurring and most variable craniosynostosis syndromes was investigated; Saethre-Chotzen syndrome. Craniosynostosis is the premature obliteration of cranial sutures in the developing embryo. It can also occur in
Heer, I.M. (Inge Marieke) de
core   +5 more sources

Microarray analysis of Foxl2 mediated gene regulation in the mouse ovary derived KK1 granulosa cell line: Over-expression of Foxl2 leads to activation of the gonadotropin releasing hormone receptor gene promoter [PDF]

, 2010
Background The Foxl2 transcription factor is required for ovarian function during follicular development. The mechanism of Foxl2 regulation of this process has not been elucidated.
Jean M Escudero, Jodi L Haller, Colin M Clay, Kenneth W Escudero   +3 more
core   +1 more source

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Egyptian Journal of Medical Human Genetics, 2022
Background Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge ...
Hugo H. Abarca-Barriga, Felix Chavesta Velásquez, Renzo Punil Luciano   +2 more
doaj   +1 more source

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Frontiers in Genetics, 2022
Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases.
Sunha Park, Jaewon Kim, Tae-Young Song, Dae-Hyun Jang   +3 more
doaj   +1 more source

Regulation of reproduction via tight control of gonadotropin hormone levels. [PDF]

, 2018
Mammalian reproduction is controlled by the hypothalamic-pituitary-gonadal axis. GnRH from the hypothalamus regulates synthesis and secretion of gonadotropins, LH and FSH, which then control steroidogenesis and gametogenesis. In females, serum LH and FSH
Coss, Djurdjica
core   +1 more source