A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. [PDF]
J Cardiovasc Ultrasound, 2018 A 40-year-old man presented with palpitation for 2 days. His past medical history was unremarkable. Physical examination revealed that multiple lentigines of 5 mm to 15 mm that were black-brown in color, macule, flat, and scattered on the face, neck ...
Kim K +6 more
europepmc +2 more sources
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 +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 +2 more
doaj +1 more source
LEOPARD syndrome with rare skeletal anomalies: A case report
Indian Journal of Dermatology, 2013 Sonali Kohli +4 more
doaj +2 more sources
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
core +1 more source
The Role of Leopard Spot Technique Acupuncture for Shoulder Impingement with Myofascial Pain Syndrome. [PDF]
Sultan Qaboos Univ Med JSummary Shoulder impingement syndrome can be defined as a collection of symptoms and signs in the shoulder caused by pathology within the intrinsic or extrinsic that cause pinching in the narrowed space between the acromion and the head of the humerus ...
Ratnasari D, Wahdini S.
europepmc +2 more sources
LEOPARD Syndrome (Multiple Lentigine Noonan Syndrome)
, 2021 LEOPARD is a syndrome characterized by sensorineural hearing loss and abnormal genitalia in addition to dysmorphic facial features, including diffuse brown spots, cardiac abnormalities, short stature, pectus deformity, widely spaced eyes, and ptosis ...
A. Saygılı, Mine Ün
semanticscholar +1 more source
Protein kinase A (PKA) phosphorylation of Shp2 inhibits its phosphatase activity and modulates ligand specificity. [PDF]
, 2015 Pathological cardiac hypertrophy (an increase in cardiac mass resulting from stress-induced cardiac myocyte growth) is a major factor underlying heart failure.
Burmeister, BT +5 more
core +1 more source
LEOPARD syndrome with late onset lentigines: A rarity
Indian Journal of Paediatric Dermatology, 2018 Sir, LEOPARD syndrome (LS) is a rare hereditary disorder characterized by skin, facial, and cardiac anomalies. LEOPARD is an acronym for the major feature of this disorder, including multiple lentigines, electrocardiogram (ECG) abnormalities, ocular ...
Sunder Nagakeerthana +2 more
doaj +2 more sources