Results 51 to 60 of about 84,985 (300)
Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
Modern approaches to surgical treatment of juvenile hemangiomas [PDF]
Саратовский научно-медицинский журнал, 2015 Aim: studying of clinical and functional features of juvenile hemangioma to identify indications to their removal. Analysis of the nature of side effects at the different methods of treatment and determination of efficiency of the ra-diowave moving away ...
Dubensky V.V.
doaj
Subcutaneous Lobular Capillary Hemangioma Presenting as a Facial Mass
Case Reports in Otolaryngology, 2018 Lobular capillary hemangioma is a benign lesion of the skin and mucous membranes. Subcutaneous lobular capillary hemangioma presents as a deeper nodule. Lack of the characteristic surface changes of this subtype of lobular capillary hemangioma makes the ...
Charles Saadeh +2 more
doaj +1 more source
Verrucous venous malformation [PDF]
, 2019 Verrucous venous malformation, also known as verrucous hemangioma, is a superficial vascular malformation with a variable degree of hyperkeratosis that is composed of capillaries and veins in the dermis and sometimes subcutaneous tissue. We describe a 53-
Kim, Gene H +2 more
core
Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management [PDF]
, 2016 Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic ...
Abdolrahimzadeh, Solmaz +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
An incidental ovarian mass: A case of ovarian hemangioma with prominent stromal luteinization
Medical Journal of Dr. D.Y. Patil University, 2015 Ovarian hemangioma is a rare benign tumor of female genital tract. Stromal luteinization in ovarian hemangioma is an uncommon process and the pathogenesis is controversial.
Babak Shirazi +3 more
doaj +1 more source
Synovial hemangioma: A rare cause of chronic knee pain
Clinical Case Reports, 2022 Synovial hemangioma is a rare benign vascular tumor responsible for chronic knee pain and swelling. Given its non‐specific symptoms, synovial hemangioma is often misdiagnosed.
Maroua Slouma +7 more
doaj +1 more source
Total-liver-volume perfusion CT using 3-D image fusion to improve detection and characterization of liver metastases [PDF]
, 2008 The purpose of this study was to evaluate the feasibility of a totalliver- volume perfusion CT (CTP) technique for the detection and characterization of livermetastases.
Kuijk, Cornelis van +5 more
core +7 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source