Results 71 to 80 of about 1,001,818 (295)

Asymptomatic azygos phlebectasia associated with CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal/skeletal anomalies/scoliosis) syndrome

Journal of Vascular Surgery Cases and Innovative Techniques, 2023
Claire A. Ostertag-Hill, MD, Steven J. Fishman, MD, Melisa Ruiz-Gutierrez, MD, PhD, Rush H. Chewning, MD   +3 more
doaj   +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

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

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

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

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +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

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

Precision TACE can be used as a minimally invasive treatment to relieve FAVA symptoms

Asian Journal of Surgery, 2023
Liang Wang, Jie Zhou, Dan Song, Lei Guo
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source