نتایج جستجو برای: leopard syndrome

تعداد نتایج: 623523  

Journal: :The Turkish journal of pediatrics 2004
Ergun Cetinkaya Nazlihan Günal Nilgün Sönmez Zehra Aycan Sadi Vidinlisan Oz Kahramanyol Ilhan Paşaoğlu

The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities. Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease. In this study, we present a nine-year-old boy with LEOPARD syn...

Journal: :International journal of dermatology 2010
Harunosuke Kato Rie Yoshida Katsuhiko Tsukamoto Hirotaka Suga Hitomi Eto Takuya Higashino Jun Araki Tsutomu Ogata Kotaro Yoshimura

Five familial cases exhibited ephelides-like multiple lentigines, and we examined three of them, a mother and two sons. All three patients presented with small dark-brown maculae on the face and neck and electrocardiographic abnormalities. These findings sufficed to fulfill the criteria for LEOPARD syndrome (multiple lentigines syndrome), although they lacked five of seven major clinical featur...

Journal: :Annals of dermatology 2011
Jihyun Kim Mi Ri Kim Hee Jung Kim Kyung-A Lee Min-Geol Lee

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertr...

Journal: :Orphanet Journal of Rare Diseases 2008
Anna Sarkozy Maria Cristina Digilio Bruno Dallapiccola

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patie...

2017
Flávio Heleno da Silva Queiroz Cançado Luis Candido Pinto da Silva Paulo Franco Taitson Ana Carolina Dias Viana de Andrade Matheus Melo Pithon Dauro Douglas Oliveira

Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism,...

Journal: :Journal of prenatal medicine 2008
Giuseppe Limongelli Giuseppe Pacileo Maria Giovanna Russo Anna Sarkozy Maria Felicetti Giovanni Di Salvo Carmela Morelli Paolo Calabrò Dario Paladini Bruno Marino Bruno Dallapiccola Raffaele Calabrò

OBJECTIVE Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an autosomal dominant disease due to mutations in the raS-MapK pathway. METHODS Here, we describe a family (mother and daughter) with clinical and molecular diagn...

2015
Hatice Kaplanoglu Osman Beton Lale Dinc Hakki Kaya Burhan Yilmaz

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. On her coronary CT angiography, LMCA originated from the right coronary sinus and had a prepulmonic course. The purpose of this article is to present this patient with Leopard syndrome accompanied by left cor...

Journal: :Journal of Experimental and Basic Medical Sciences 2021

2018
Caroline Colmant Deborah Franck Liliane Marot Gert Matthijs Yves Sznajer Sandrine Blomme Isabelle Tromme

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), oc...

The leopard (Panthera pardus) as an adaptable felid widely distributed in varied ecosystems of Iran. The Golestan Natural Park is one of the main habitats of leopard in the country. It has divers diet and preying various types of preys such as wild ungulate and livestock. The prey remains’ samples of leopard were collected and preserved using ethanol 96% and whole genomic DNA was extracted. The...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید