Results 51 to 60 of about 2,495 (204)

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

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype

, 2016
We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome.
Dogan, Murat, Demir, Nihat, Kocaman, Selami, Bulut, Mehmet Deniz, Bulan, Keziban, Uner, Abdurrahman, Kaba, Sultan   +6 more
core   +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/December 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

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

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype

: Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability.
Brusco, Alfredo, Alders, Mariëlle, Relator, Raissa, Brunetti-Pierri, Nicola, Hennekam, Raoul C M, Henneman, Peter, Zollino, Marcella, Oliveira, Daniela, Weber, Sacha, Trajkova, Slavica, Ciaccio, Claudia, Yamamoto, Toshiyuki, Sarli, Camilla, Bourgois, Alexia, Metcalfe, Kay, Skinner, Cindy, Reilly, Jack, Cappuccio, Gerarda, Sousa, Sergio, Tedder, Matthew L, Kini, Usha, Levy, Michael, Kerkhof, Jennifer, Sousa, Sergio B, Williams, Denise, Hennekam, Raoul, Vincent-Devulder, Aline, Sadikovic, Bekim, Vitobello, Antonio, McConkey, Haley, Levy, Michael A, Perrin, Laurence, Faivre, Laurence, van der Laan, Liselot, Carli, Diana, D'Arrigo, Stefano, Tedder, Matthew   +36 more
core   +3 more sources

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

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 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

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

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source