Results 81 to 90 of about 3,111 (197)

The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Genitopatellar syndrome (GPS) is a rare genetic disorder characterized by a spectrum of clinical manifestations including the absence of patellae, psychomotor retardation, congenital flexion deformity of the lower limbs, and genitourinary abnormalities.
Sara Alzanbaqi, Ahmed Ghibban, Zuhair S. Natto, Hannah Wesley   +3 more
wiley   +1 more source

Management of Patella Dislocation in Say-Barber-Biesecker-Young-Simpson’s Syndrome: A Report of Two Cases

Case Reports in Orthopedics, 2018
Say-Barber-Biesecker-Young-Simpson’s syndrome is one of the Ohdo-like syndromes. It is a very rare congenital condition that is commonly defined by its main clinical features that are blepharophimosis, ptosis, mental retardation, and delayed motor ...
Meni Mundama, Serge Ayong, Renaud Rossillon   +2 more
doaj   +1 more source

The transcription factor FOXL2 in ovarian function and dysfunction. [PDF]

, 2010
The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF).
Baere, Elfride De, Fellous, Marc, Veitia, Reiner A   +2 more
core   +2 more sources

Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract Nablus mask‐like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4‐year‐old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose.
A. Mitrakos, K. Kekou, F.‐N. Tilemis, M. Svingou, G. Papadimas, C. Sofocleous, J. Traeger‐Synodinos, M. Tzetis   +7 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

DOES OVARIAN AUTOIMMUNITY PLAY A ROLE IN THE PATHPHYSIOLOGY OF PREMATURE OVARIAN INSUFFICIENCY [PDF]

, 2014
Premature ovarian failure (POF) is a term usually used to describe women younger than 40 years of age who present with amenorrhea. Diagnosis of POF is on the basis of follicle stimulating hormone level in the menopausal range associated with amenorrhea ...
Bakun, Oxana, Sekeiros Peres, Krize, Voitko, Maryna   +2 more
core  

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

Two-Stage Correction of Blepharophimosis Syndrome

Asia-Pacific Journal of Ophthalmology, 2012
To evaluate the outcome of surgical correction of blepharophimosis syndrome.A retrospective, non-randomized, interventional case series.Ten patients undergoing surgical correction of blepharophimosis syndrome in 2 stages were reviewed. In the first stage, correction of epicanthic fold and telecanthus was done by either Y-V plasty or Roveda procedure ...
Murtuza, Nuruddin, Munirujzaman, Osmani
openaire   +2 more sources

Ptosis congénital: expérience d'un centre de soins tertiaires Marocain et mise au point

The Pan African Medical Journal, 2014
Le ptosis congénital constitue la malposition palpébrale la plus fréquente de l'enfant. Le but de ce travail est de rapporter l'expérience de notre service dans la prise en charge de cette affection.
Hanan Handor, Zouheir Hafidi, Moulayzahid Bencherif, Youssef Amrani, Adil belmokhtar, Mina Laghmari, Rajae Daoudi   +6 more
doaj   +1 more source

Comparison of Triangular Technique, Double Triangular Technique and Pentagonal Technique of Frontalis Sling Surgery in Ptosis Correction

Delhi Journal of Ophthalmology, 2012
Purpose: To compare Triangular technique, Double Triangular technique and Pentagonal technique of Frontalis Sling surgery in ptosis correction in congenital ptosis patients. Methods: Cases with bilateral congenital simple ptosis with poor levator action,
Kumar Vivek, Reetika, Vinay Kumar, Anasua Ganguly, Nilesh Mohan, Mandeep S Bajaj, Supriyo Ghose   +6 more
doaj   +1 more source