LEOPARD Syndrome (Multiple Lentigine Noonan Syndrome)
نویسندگان
چکیده
منابع مشابه
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
INTRODUCTION AND OBJECTIVES LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD syndrome patients. METHODS We collected clinical data from 19 patients in 10 hospitals. Bidirectional sequencing analysis of PTPN11, RAF1, and B...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
متن کاملMultiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism...
متن کاملNoonan syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...
متن کاملNoonan syndrome.
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deform...
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ژورنال
عنوان ژورنال: Journal of Experimental and Basic Medical Sciences
سال: 2021
ISSN: 2717-9478
DOI: 10.5606/jebms.2020.75628