Results 91 to 100 of about 2,495 (204)

Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases Síndrome de la blefarotimosis familiar: estudio de dos familias colombianas y dos casos esporádicos

Iatreia, 1989
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus.
José Luis Ramírez Castro
doaj  

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

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

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome

, 1989
From the Hospitals for Sick Children, Great Ormond Street, London WCJN 3JH. SUMMARY Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.
I K Temple, I K Temple, M Baraitser
core   +1 more source

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities

, 2017
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe ...
Murat Erdogan, SAHİN, Yavuz, Erdogan, Murat, Ergul, Ayse B., Ayse B. Ergul, ÖZCAN, Alper, Balta, Burhan, Burhan Balta, Yavuz Sahin, Alper Ozcan   +9 more
core   +1 more source

Blepharophimosis-ptosis-epicanthus inversus syndrome (type 1)

TNOA Journal of Ophthalmic Science and Research, 2021
Manpreet Singh, Arshiya Saini, Manpreet Kaur, Bhavna Singla   +3 more
doaj   +1 more source

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

, 2016
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study.
A v Cruz, A, Molfetta, G, Chodraui-Filho, S, Araujo Silva, W, Cintra, M, Toscano, A, Duarte, AF, Akaishi, P   +7 more
core   +1 more source

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

, 2012
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids.
Abramovicz, M., Morice-Picard, Fanny, Alao, Maroufou M.J., Rooryck, Caroline, Hans, Christine, Arveiler, Benoit, Lalya, Francis, Lalèyè, Anatole, Lacombe, Didier   +8 more
core   +1 more source

Blepharophimosis

, 2016
Craig Hacking, Frank Gaillard, Daniel Bell   +2 more
openaire   +1 more source

Mental retardation with blepharophimosis. [PDF]

Journal of Medical Genetics, 1987
B Say, N Barber
openaire   +1 more source