Results 31 to 40 of about 3,804 (178)

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2006
A síndrome Leopard é distúrbio autossômico dominante de forte penetrância e expressividade variável. O epônimo Leopard foi criado em 1969 como regra mnemônica, ressaltando as características mais marcantes da síndrome: lentiginose, distúrbios de condução
Roberta Soriano de Cerqueira, Alessandra Ribeiro Romiti, Walter Belda Jr, Zilda Najjar Prado de Oliveira, Maria Cecília Rivitti Machado, Ricardo Romiti   +5 more
doaj   +1 more source

Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects. [PDF]

PLoS Genetics, 2007
Shp2 is a cytoplasmic protein-tyrosine phosphatase that is essential for normal development. Activating and inactivating mutations have been identified in humans to cause the related Noonan and LEOPARD syndromes, respectively.
Chris Jopling, Daphne van Geemen, Jeroen den Hertog   +2 more
doaj   +1 more source

Left atrial myxoma in a patient with hypertrophic obstructive cardiomyopathy

Journal of Clinical and Preventive Cardiology, 2022
Hypertrophic cardiomyopathy and left atrial myxoma are important cardiac causes of syncope. We present an extremely rare combination of these two diseases in a middle-aged man with syncope. Transthoracic echocardiographic images show the typical features
Jayaprasad Narayanapillai, Suresh Madhavan   +1 more
doaj   +1 more source

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. [PDF]

BMC Med Genet, 2014
Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another.
Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone G, Perrotta S.   +9 more
europepmc   +2 more sources

Anomalous Origin of the Left Main Artery from Right Coronary Sinus with a Prepulmonic Course

Journal of the Belgian Society of Radiology, 2015
A 32 year old female patient presented to the cardiology clinic with an atypical chest pain. Her history revealed no other condition than Leopard syndrome which was diagnosed on her birth.
Hatice Kaplanoglu, Osman Beton, Lale Dinc, Hakki Kaya, Burhan Yilmaz   +4 more
doaj   +1 more source

Cardiac Myxoma in a Patient With Hypertrophic Cardiomyopathy

JACC: Case Reports, 2020
We report a rare case of concomitant hypertrophic cardiomyopathy and cardiac myxoma without LEOPARD syndrome. Additionally, 6 similar cases were systemically reviewed, and the characteristics of this first-ever studied patient group were summarized ...
Weng-Tein Gi, MD, MSc, Farbod Sedaghat-Hamedani, MD, Omid Shirvani Samani, MD, Elham Kayvanpour, MD, Esther Herpel, MD, Rawa Arif, MD, Johannes Riffel, MD, Derliz Mereles, MD, Hugo A. Katus, MD, Benjamin Meder, MD   +9 more
doaj   +1 more source

Syndromic Hearing Loss in Association with -Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome [PDF]

Clinical and Experimental Otorhinolaryngology, 2013
Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL.
Ho-Suk Chu, Hae-Sun Chung, Moon-Hee Ko, Hee-Jin Kim, Chang-Seok Ki, Won-Ho Chung, Yang-Sun Cho, Sung Hwa Hong   +7 more
doaj   +1 more source

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. [PDF]

BMC Neurol, 2015
BACKGROUND: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair ...
Spatola M, Wider C, Kuntzer T, Croquelois A.   +3 more
europepmc   +2 more sources

Familial LEOPARD syndrome with hypertrophic cardiomyopathy

, 2020
Multiple lentigines syndrome is an autosomal dominant inherited condition with variable expressivity that is also known as LEOPARD syndrome. LEOPARD stands for lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve ...
Khandheria, Bijoy K, Jain, Renuka, Sanders, Heather K, Jan, Muhammad Fuad, Galazka, Patrycja, Bush, Michelle, Tajik, A. Jamil, Muthukumar, Lakshmi, Jahangir, Arshad   +8 more
core   +1 more source

Syndrome of Primary Myocardial Hypertrophy: Clinical and Morphological, Genetic Diagnostics and Comparison of Sarcomerial Variants of Cardiomyopathy and its Phenocopy

Рациональная фармакотерапия в кардиологии, 2019
Aim. To study the nosological spectrum in the syndrome of primary left ventricle hypertrophy (PLVH) using morphological and genetic diagnostics and to compare the clinical course of true hypertrophic cardiomyopathy (HCM) and its phenocopy.Material and ...
O. V. Blagova, E. V. Zaklyazminskaya, E. A. Kogan, V. P. Sedov, G. М. Radzhabova, M. Е. Polyak, A. V. Nedostup   +6 more
doaj   +1 more source