Navegando por Palavras-chave "Costello syndrome"

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    CFC index for the diagnosis of cardiofaciocutaneous syndrome
    (Wiley-Blackwell, 2002-09-15) Kavamura, Maria Ines [UNIFESP]; Peres, Clovis de Araujo [UNIFESP]; Alchorne, Maurício Mota de Avelar [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress. (C) 2002 Wiley-Liss, Inc.
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    Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome
    (Wiley-Blackwell, 2007-04-15) Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi; Tohoku Univ; Univ Cattolica Sacro Cuore; Hop Robert Debre; Universidade Federal de São Paulo (UNIFESP); Osaka Med Ctr; Res Inst Maternal & Child Hlth; Kanagawa Childrens Med Ctr; Inst Child Hlth; Univ Amsterdam; Great Ormond St Hosp Sick Children; Univ Essen Gesamthsch; Univ Klinikum Schleswig Holstein; Hosp Univ La Paz; Saitama Childrens Med Ctr; Asahikawa Med Coll; Ibaraki Prefectural Handicapped Childrens Ctr; Hirosaki Univ
    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. the purpose of this study was to perform comprehensive mutation analysis in 56 patients with CFC syndrome and to investigate genotype-phenotype cot-relation. We analyzed KRAS, BRAF, and MAP2K1/2 (MEK1/2) in 13 new CFC patients and identified five BRAF and one MAP2K1 mutations in nine patients. We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. No mutations were identified in MAPK3/1(ERKI/2) in 21 patients without any mutations. in total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2). No significant differences in clinical manifestations were found among 3 KRAS-positive patients, 16 BRAF-positive patients, and 6 MAP2K1/2-positive patients. Wrinkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30-40% of the mutation-positive CFC patients, suggesting a significant clinical overlap between these two syndromes. (c) 2007 Wiley-Liss, Inc.