Results 51 to 60 of about 86,186 (304)
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
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
Peliosis hepatis. Personal experience and literature review [PDF]
, 2015 Peliosis hepatis (PH) is a disease characterized by multiple and small, blood-filled cysts within the parenchymatous organs. PH is a very rare disease, more common in adults, and when it affects the liver, it comes to the surgeon’s attention only in ...
Crocetti, Daniele +5 more
core +1 more source
Safe and Effective Treatment of Intracranial Infantile Hemangiomas with Beta-Blockers [PDF]
, 2021 Aoife Naughton +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 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
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
The feasibility of wireless capsule endoscopy in detecting small intestinal pathology in children under the age of 8 years: a multicentre European study. [PDF]
, 2009 Objective: To systematically evaluate the feasibility and methodology to carry out wireless capsule endoscopy (WCE) in children
Bufler, Philip +8 more
core +6 more sources
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
Infantile hemangioma presenting as colocolic intussusception in an infant case report with review of pathologic lead points [PDF]
, 2018 Infantile hemangioma (IH) is one of the most common vascular anomalies of early childhood and is usually recognized in the first few weeks to months of life as a solitary cutaneous lesion.
Dehner, Louis P. +3 more
core +2 more sources