Results 71 to 80 of about 2,206,574 (297)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

De Novo Balanced Chromosomal Translocations Separate Intact FOXF1 From Its Distant Lung‐Specific Enhancer in Lethal Alveolar Capillary Dysplasia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by haploinsufficiency of FOXF1 on chromosome 16q24.1. Genetic studies have revealed heterozygous point mutations or copy‐number variant deletions involving FOXF1 or the ~660‐bp ultra‐conserved lung‐specific enhancer ...
Hiuling Chan Joiner, Daniel McKinnon, Przemyslaw Szafranski, Tomasz Gambin, Partha Sen, Andrew J. Gifford, Edwin P. Kirk, Ryan D. Coleman, Nahir Cortes‐Santiago, Paweł Stankiewicz   +9 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Case Report: CLAPO syndrome: a case management and literature review

Frontiers in Pediatrics
BackgroundCLAPO syndrome, a condition potentially associated with the PIK3CA-related overgrowth spectrum, is a rare vascular malformation that was first reported in 2008 and formally incorporated into the ISSVA classification in 2018.ObjectiveThis study ...
Liang Wang, Liang Wang, Ming Wang, Xiaojuan Li, Bingxuan Jiao, Bingxuan Jiao, Dan Song, Dan Song   +7 more
doaj   +1 more source

Association of miR-938 rs2505901 T > C polymorphism with reduced risk of venous malformations in a Chinese population

Scientific Reports
Venous malformations are a common congenital vascular disorder. MicroRNAs are micro non-coding RNAs that are responsible for regulating the expression of genes after transcription.
Shifeng Xie, Qiuyi Chen, Xi Lin, Guitao Wu, Xiaoyun Tan, Zhenyin Liu   +5 more
doaj   +1 more source

A comparative analysis of growth and developmental outcomes in infants with proliferative hemangiomas treated with oral propranolol versus prednisone

Frontiers in Public Health
ObjectiveTo investigate the clinical efficacy, adverse reactions, and physical growth and neurodevelopment effects of oral propranolol in infants with proliferative hemangiomas and to compare these outcomes with those of oral prednisone.MethodsA ...
Yanli Niu, Dan Song, Jing Li, Liang Wang, Lei Guo   +4 more
doaj   +1 more source

Vascular anomalies [PDF]

Journal of Vascular Surgery, 1986
H H, Trout, H A, McAllister, J M, Giordano   +2 more
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Multimodal management of late-stage Bockenheimer disease complicated by severe anemia and coagulopathy: a case report

Frontiers in Medicine
BackgroundBockenheimer disease is a rare subtype of venous malformations that involves all tissue planes of an upper extremity. This condition progresses throughout life and may cause pain, swelling, hematologic complications, and loss of function ...
Zilu Wang, Mingzhe Wen, Qianyun Han, Deming Wang, Lixin Su, Xindong Fan   +5 more
doaj   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source