Results 61 to 70 of about 2,495 (204)

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

Cancer in pregnancy: FIGO Best practice advice and narrative review

International Journal of Gynecology &Obstetrics, Volume 171, Issue 1, Page 131-151, October 2025.
Abstract Cancer during pregnancy is relatively rare. The incidence is underestimated due to the lack of international registries covering both high‐income and low‐ and middle‐income countries, and is expected to rise with increasing maternal age and increasing global adoption of cell‐free DNA testing for aneuploidy.
Surabhi Nanda, Melanie Nana, Long Nguyen‐Hoang, Sumaiya Adam, Fionnuala McAuliffe, Lina Bergman, Sarikapan Wilailak, Orla McNally, Cynthia V. Maxwell, Nikhil Purandare, Bo Jacobsson, Virna P. Medina, Anil Kapur, Titus Beyuo, Francisco Ruiloba, Ernesto Castelazo, Graeme N. Smith, Sharleen L. O'Reilly, Patrick O'Brien, Mark Hanson, Mary L. Rosser, Claudio Sosa, Valerie Guinto, Jonathan Berek, Catherine Nelson‐Piercy, Frédéric Amant, Liona Poon, on behalf of the FIGO Committee on the Impact of Pregnancy on Long‐term Health, FIGO Committee on Women's Cancer, and the FIGO Division of Maternal and Newborn Health   +29 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

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. [PDF]

, 2008
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus.
Hendriks, Yvonne, Van Regemorter, Nicole, De Baere, Elfride, Wieczorek, Dagmar, Wilson, Louise C., Beysens, D., De Paepe, Anne, Kimonis, Virginia, Barel, Dalit, Clayton-Smith, Jill, Leroy, Bart P., Van Regenmorter, Nicole, Christin-Maitre, Sophie, de Ravel, Thomy, Gillessen-Kaesbach, G., Gillessen-Kaesbach, Gabriele, Christin‐Maitre, Sophie, Plomp, Astrid, Neumann, Luitgard, Hennekam, Raoul, Plompen, Arjan, Grix, Arthur W, de Ravel, Thomas, Meire, Françoise, Miller, David T, Wilson, Louise C, Hendrikx, Yvonne, Amor, David, Mowat, David, Grix, Arthur W., Laissue, Paul, Bouchard, Ph., Delbeke, Patricia, Touraine, Philippe, Leroy, Bart P, Fellous, Marc, Laframboise, Rachel, Gillessen‐Kaesbach, Gabriele, BEYSEN, DIANE, De Jaegere, Sarah, Ebinger, Friedrich, Decock, Christian, Hennekam, R C, Miller, David T., Veitia, Reiner A., Leppig, Kathleen, Bouchard, Philippe, Ensenauer, Regina, Oyen, Nina, Veitia, Reiner A, Clayton‐Smith, Jill, Leroy, Bart   +51 more
core   +1 more source

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
This study describes a girl with DEE, in whom WGS identified candidate variants in HNRNPU, NIPBL, and KANSL1, with only the de novo HNRNPU variant being causative, while the inherited KANSL1 variant, located in a non‐functional duplicated locus, did not contribute to the phenotype.
Daria Akimova, Daria Guseva, Maria Nefedova, Mikhail Skoblov   +3 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  

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

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

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