Results 51 to 60 of about 1,143,678 (194)

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

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree [PDF]

, 2010
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations.
Saleem, Taimur, Khalid, Mirza Umair, Chaudhry, Tanveer Anjum, Ahmad, Khabir   +3 more
core  

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging

, 2011
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal ...
Bessenyei, Beáta, Balogh, Erzsébet, Szilvássy, Judit, Oláh, Eva, Berényi, Ervin, Knegt, Alida C., Jakab, András, Köbling, Tamás, Szakszon, Katalin   +8 more
core   +1 more source

The Ohdo blepharophimosis syndrome in a Mexican boy

, 1992
The clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis syndrome (OBS).
Ramirez-Duenas, M.L., Rivera, H., Figuera, L.E.   +2 more
core   +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

Clinical Features and Prognosis of SEPTIN9‐Related Hereditary Neuralgic Amyotrophy

European Journal of Neurology, Volume 33, Issue 4, April 2026.
Neuralgic amyotrophy (NA) may be either idiopathic (INA) or hereditary (HNA). In this multicenter retrospective study, SEPTIN9‐related HNA was associated with a younger age at onset, more frequent recurrences, sensory symptoms, distal upper‐limb nerve involvement, as well as the presence of a family history of NA and dysmorphic features, compared with ...
Julian Theuriet, Isabelle Quadrio, Frédéric Fer, Pauline Monin, Adrien Bohic, Alice Gravier‐Dumonceau, Vianney Poinsignon, Emilien Delmont, Emmanuelle Salort‐Campana, Shahram Attarian, Sylvain Nollet, Philippe Petiot, Solène Ronsin, Stéphane Peysson, Pierre Lozeron, Françoise Bouhour, Philippe Corcia, Antoine Pegat, Tanya Stojkovic   +18 more
wiley   +1 more source

Pathogenic Mechanisms of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Chinese Family with a Novel Missense FOXL2 Mutation

, 2023
Background: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease, and the only known cause is the haploinsufficiency of the forkhead box L2 (FOXL2). The purpose of this study was to study the functional changes
Zhou, Lu, Fan, Jincai, Yan, Yucheng, Song, Peng   +3 more
core   +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

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