Results 71 to 80 of about 3,428 (220)

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

Egyptian Journal of Medical Human Genetics, 2015
We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical
Rabah M. Shawky, Radwa Gamal, Neveen S. Seifeldin   +2 more
doaj   +1 more source

Anesthesia of a patient with Dubowitz syndrome -A case report- [PDF]

Korean Journal of Anesthesiology, 2010
Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema.
Min Kee Lee, Yong Seock Lee
doaj   +1 more source

Developmental dyslexia: Genetic dissection of a complex cognitive trait [PDF]

, 2002
Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders.
DeFries, J., Fisher, S.
core   +2 more sources

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES

Human Mutation, Volume 2026, Issue 1, 2026.
Heterozygous FOXL2 (non)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid malformation and incompletely penetrant primary ovarian insufficiency (POI).
Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van De Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D′haene, Annelies Dheedene, Martine Cools, Shoko Komatsuzaki, Ewelina Preizner-Rzucidło, Alison Ross, Christine Armstrong, Wendy Watkins, Andrew Shelling, Andrea L. Vincent, Catherine Cassiman, Sascha Vermeer, David J. Bunyan, Hannah Verdin, Elfride De Baere, Jian-Min Chen   +22 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

Retroviral enhancer detection insertions in zebrafish combined with comparative genomics reveal genomic regulatory blocks - a fundamental feature of vertebrate genomes [PDF]

, 2007
A large-scale enhancer detection screen was performed in the zebrafish using a retroviral vector carrying a basal promoter and a fluorescent protein reporter cassette. Analysis of insertional hotspots uncovered areas around developmental regulatory genes
Kikuta, Hiroshi, Fredman, David, Rinkwitz, Silke, Lenhard, Boris, Becker, Thomas S.   +4 more
core   +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  

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

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

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