Results 61 to 70 of about 3,419 (204)

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

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

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  

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Open Life Sciences, 2021
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes.
Cheng Tianling, Yuan Xiaobin, Yuan Shaopeng, Zhu Jianying, Tang Shengjian, Zhang Yujie   +5 more
doaj   +1 more source

Foxl2 gene and the development of the ovary : a story about goat, mouse, fish and woman [PDF]

, 2005
In this review, we describe recent results concerning the genetics of sex determination in mammals. Particularly, we developed the study of the FOXL2 gene and its implication in genetic anomalies in goats (PIS mutation) and humans (BPES).
Baron, Daniel, Batista, Frank, Chaffaux, Stéphane, Cocquet, Julie, Cotinot, Corinne, Cribiu, Edmond, De Baere, Elfride, Fellous, Marc, Guiguen, Yann, Jaubert, Francis, Pailhoux, Eric, Pannetier, Maëlle, Vaiman, Daniel, Veitia, Reiner, Vigier, Bernard   +14 more
core   +4 more sources

Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family

Egyptian Journal of Medical Human Genetics
Background Intellectual developmental disorders with dysmorphic facies and ptosis (IDDDFP) are rare neurological conditions caused by variants in the BRPF1 gene.
Qian Liu, Feifei Li, Nana Wang, Zhengjun Fan   +3 more
doaj   +1 more source

CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti‐tumoral compounds

Molecular Oncology, Volume 19, Issue 4, Page 1092-1116, April 2025.
FOXL2 c.402C>G mutation drives granulosa cell tumors. Using CRISPR technology, we selectively corrected this mutation, reducing malignancy and increasing sensitivity to dasatinib and ketoconazole. Transcriptomic changes revealed potential therapeutic targets, demonstrating CRISPR's promise for treating this rare ovarian cancer.
Sandra Amarilla‐Quintana, Paloma Navarro, Iván Hernández, Alejandra Ramos, Ana Montero‐Calle, Pablo Cabezas‐Sainz, Maria J Barrero, Diego Megías, Borja Vilaplana‐Martí, Carolina Epifano, Déborah Gómez‐Dominguez, Sara Monzón, Isabel Cuesta, Laura Sánchez, Rodrigo Barderas, Jesús García‐Donas, Alberto Martín, Ignacio Pérez de Castro   +17 more
wiley   +1 more source

A Case with Microphthalmia and Multiple Congenital Anomalies

Türk Oftalmoloji Dergisi, 2013
We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital ...
Ayça Sarı, Erdem Dinç, Olgu Hallıoğlu Kılınç   +2 more
doaj   +1 more source

Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Weiss‐Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature.
Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung‐Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel   +7 more
wiley   +1 more source