Results 51 to 60 of about 2,641 (162)

A family affected with Blepharophimosis syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Blepharophimosis syndrome is a genetic disease characterized by a shortening of the palpebral fissure or blepharophimosis, associated to ptosis and epicanthus inversus in most cases.
Elayne Esther Santana Hernández, Victor Jesús Tamayo Chang   +1 more
doaj  

Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Journal of Clinical and Translational Endocrinology Case Reports, 2020
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is an extremely rare genetic developmental condition, with hallmark findings of ocular malformation. It has two subtypes, both of which include the eponymous oculofacial features.
Sabiha Banu, Abdul Aziz, Salman Kirmani, Sarah Nadeem   +3 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Michels syndrome: The first case report from India and review of literature

Indian Journal of Ophthalmology, 2014
A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft ...
Adedayo A Adio, Ramesh Kekunnaya, Lokesh Lingappa   +2 more
doaj   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, Volume 255, Issue 3, Page 340-361, March 2026.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Zinc Deficiency Disrupts Germ Cell Nest Breakdown During In Vitro Ovary Culture

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT In mammals, the size of the non‐renewable primordial follicle pool is established before or soon after birth. Primordial follicles, each composed of a single oocyte surrounded by somatic cells, are the only source of gametes during the entire reproductive lifespan of the female.
James M. Hester, Suzanne M. Getman, Melissa E. Pepling, Francisco J. Diaz   +3 more
wiley   +1 more source

Genome Rearrangements In Patients With Blepharophimosis, Mental Retardation And Hypothyroidism, So-called Young-simpson Syndrome

, 2015
[No abstract available]762210213Day, R., Beckett, B., Donnai, D., A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type pf Ohdo syndrome (2008) Clin Genet, 74, pp. 434-444Verloes, A., Bremond-Gignac, D., Isidor, B., Blepharophimosis-
Bernardini L., Brancati F., Romano C., Cavalcanti D.P., Novelli A., Dallapiccola B.   +5 more
core   +1 more source

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

, 2001
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23.
Deiana M, Porcu S, Marzella R, Gasparini P, Cao A, CRISPONI, LAURA, Nicolino M, Bisceglia L, Schlessinger D, Bonneau D, Zelante L, Uda M, Verloes A, Loi A, ROCCHI, Mariano, Rocchi M, Nagaraja R, Nivelon A, Crisponi L, Pilia G., Chiappe F, Amati P, Lienhardt Roussie A, Serafina Ristaldi M, Ristaldi MS   +24 more
core   +2 more sources

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Frontiers in Pediatrics, 2020
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically ...
Liuyan Zhu, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao   +7 more
doaj   +1 more source

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy

Congenital Anomalies, Volume 66, Issue 1, January/February 2026.
ABSTRACT Distal deletion 14q syndrome is a rare chromosomal disorder characterized by variable features, including growth restriction, craniofacial dysmorphism, developmental delay, and congenital anomalies. Diagnosis is often delayed because conventional G‐banding may appear normal.
Koji Nakae, Shiori Hamada, Junpei Kawamura, Kentaro Ueno, Toshiki Takenouchi, Yasuhiro Okamoto   +5 more
wiley   +1 more source