Noonan syndrome with multiple lentigines and associated craniosynostosis
نویسندگان
چکیده
منابع مشابه
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy
Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome) is an autosomal dominant "RASopathy" disorder manifesting in congenital heart disease. Most cases of NSML are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11), encoding the SH2 domain-containing PTP-2 (SHP2) protein. We previously generated knock-in m...
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The present report describes a case of Noonan's syndrome from a dental viewpoint. Noonan syndrome is an autosomal dominant multisystem disorder. Congenital heart deformities, short stature, thoracic deformities, short neck with webbing, hypertelorism, and malocclusions are some of the frequently observed clinical features. Atypical dental anomalies such as multiple unerupted permanent teeth, mu...
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Noonan syndrome with multiple lentigines (NSML) is primarily caused by mutations in the nonreceptor protein tyrosine phosphatase SHP2 and associated with congenital heart disease in the form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Our goal was to elucidate the cellular mechanisms underlying the development of HCM caused by the Q510E mutation in SHP2. NSML patients car...
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 کاملNeurofibromatosis 1/Noonan syndrome associated with Hashimoto's thyroiditis and vitiligo.
Sir, Neurofibromatosis 1 (NF1) is an autosomal dominant disease which predominantly involves the skin and the nervous system. The cardinal features of NF1 include neurofibromas, café-au-lait spots, axillary and inguinal freckling, eye abnormalities comprising Lisch nodules, optic glioma and osseous lesions and learning disabilities (1). Noonan syndrome (NS), is a genetic disorder whose prevelan...
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ژورنال
عنوان ژورنال: Clinical and Experimental Dermatology
سال: 2018
ISSN: 0307-6938
DOI: 10.1111/ced.13329