LEOPARD syndrome with late onset lentigines: A rarity
نویسندگان
چکیده
منابع مشابه
Multiple 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 کاملThe leopard (multiple lentigines) syndrome: a case report.
Lentigines are small brown macules in the skin characterised histopathologically by an increased number of melanocytes at the dermo-epidermal junction. Profuse lentigines, first described in the literature as 'lentiginosis profusa' was thought to be a dermatologic oddity. Later reports appeared of an association with cardiac abnormalities and sexual infantilism. I Based on further observations,...
متن کاملClinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
M ultiple lentigines LEOPARD syndrome (MIM 151100) is an autosomal dominant multiple congenital anomaly syndrome, with high penetrance and markedly variable expression. The acronym LEOPARD was coined by Gorlin et al. in 1971 as a mnemonic of the major features of this disorder: multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retard...
متن کاملONLINE MUTATION REPORT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
M ultiple lentigines LEOPARD syndrome (MIM 151100) is an autosomal dominant multiple congenital anomaly syndrome, with high penetrance and markedly variable expression. The acronym LEOPARD was coined by Gorlin et al. in 1971 as a mnemonic of the major features of this disorder: multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retard...
متن کاملFamilial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
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...
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2018
ISSN: 2319-7250
DOI: 10.4103/ijpd.ijpd_4_17