Results 61 to 70 of about 2,641 (162)

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

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

Clinical and Molecular Delineation of KAT6B‐Related Disorders: Novel Variants and Refined Genotype–Phenotype Correlations

Human Mutation, Volume 2026, Issue 1, 2026.
KAT6B‐related disorders (KRDs) comprise a spectrum of developmental disorders ranging from Genitopatellar syndrome (GPS) to Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS), with increasing recognition of intermediate phenotypes. Although genotype–phenotype correlations have progressively emerged, the molecular basis of phenotypic variability ...
Vito Luigi Colona, Maria Gnazzo, Annalidia Donato, Lavinia Fioretti, Alessandra Terracciano, Delia Monopoli, Paola Sabrina Buonuomo, Michaela Veronika Gonfiantini, Donatella Lettori, Roberta Taurisano, Tommaso Mazza, Daniela Concolino, Mafalda Mucciolo, Marina Macchiaiolo, Antonio Novelli, Davide Vecchio, Miklos Sahin -Toth   +16 more
wiley   +1 more source

Foxl2 Mutations in Taiwanese Patients with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

, 2011
Background: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the
LIN, WEI-DE;CHOU, I.-CHING;LEE, NI-CHUNG;WANG, CHUNG-HSING;HWU, WUH-LIANG;LIN, SHUAN-PEI;CHAO, MEI-CHYN;TSAI, YUHSIN;TSAI, FUU-JEN, 林瑋德;周宜卿;李妮鍾;王仲興;胡務亮;林炫沛;趙美琴;蔡育勳;蔡輔仁   +1 more
core  

Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23) [PDF]

, 2008
We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital ...
Kalscheuer, Vera M., Peters, H., Tzschach, Andreas, Tzschach, A., Kelbova, Christina, Weidensee, Sabine, Ullmann, R., Menzel, Corinna, Erdogan, Fikret, Kalscheuer, V., Kelbova, C., Jurkatis, J., Ropers, H., Weidensee, S., Ropers, Hans-Hilger, Demuth, S., Erdogan, F., Jurkatis, Jan, Menzel, C., Demuth, Stephanie, Peters, Hartmut, Ullmann, Reinhard   +21 more
core   +1 more source

Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis

, 2011
Notch signaling is pivotal for the morphogenesis and homeostasis of many tissues. We found that aberrant Notch activation in mouse neural-crest-derived periocular mesenchymal cells (POMCs), which contribute to the formation of corneal and eyelid stroma ...
Pelosi, Emanuele, Kao, Winston W. -Y., Zhang, Yujin, Liu, Chia-Yang, Schlessinger, David   +4 more
core   +2 more sources

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Journal of the ASEAN Federation of Endocrine Societies, 2017
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF).
Abhinav Kumar Gupta, Deepak Chand Gupta, Saqib Ahmad Khan, Syed Mohd Razi   +3 more
doaj  

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Case Reports in Genetics, 2011
We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH).
Diana C. Darcy, Scott Rosenthal, Robert J. Wallerstein   +2 more
doaj   +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

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