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 Printable version |
Noonan syndrome and related syndromes |
MT / médecine de la reproduction, gynécologie et endocrinologie. Volume 12, Number 2, 82-9, avril-mai-juin 2010, Congrès de médecine fœtale 2010, Morzine
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 Résumé
Article gratuit
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Author(s) : Alain Verloes, Hélène Cavé |
Summary : Noonan syndrome is an autosomal dominant disorder affecting about one in 2000, characterized by the association of typical facial dysmorphism, cardiac abnormalities (congenital heart defect, hypertrophic cardiomyopathy and arrhythmia), postnatal growth retardation, sternal deformity and, in a minority of cases, learning disabilities or mental retardation. LEOPARD syndrome is clinically similar with Noonan syndrome, with lentiginosis. Cardiofaciocutaneous syndrome (CFC) and Costello syndrome are characterized by Noonan-like dismorphia, major feeding difficulties, and more severe and more constant developmental delay. These four entities are due to mutations in different genes (PTPN11, SOS1, HRAS, KRAS, NRAS, RAF1, BRAF, MEK1, MEK2, SHOC2) coding for protein partners of the RAS / MAPK signaling pathway . We review the clinical data, tumor risks (low risk of leukemia for Noonan, high risk of sarcoma for Costello), follow-up recommendations, molecular basis and genotype-phenotype relations of these entities. |
Keywords : Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, RAS/MAPK signaling pathway, growth retardation, congential heart defect, mental retardation |
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