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• W2046775217 abstract "Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to the first year of life of 57 subjects with molecularly confirmed diagnosis of RASopathy, to define the early clinical features characterizing these disorders and improve our knowledge on natural history. Mildly or markedly expressed facial features were invariably present. Congenital heart defects were the clinical issue leading to medical attention in patients with Noonan syndrome and LEOPARD syndrome. Feeding difficulties and developmental motor delay represented the most recurrent features occurring in subjects with cardiofaciocutaneous syndrome and Costello syndrome. Thin hair was prevalent among <i>SHOC2</i> and <i>BRAF</i> mutation-positive infants. Café-au-lait spots were found in patients with LS and <i>PTPN11</i> mutations, while keratosis pilaris was more common in individuals with <i>SOS1</i>, <i>SHOC2</i> and <i>BRAF</i> mutations. In conclusion, some characteristics can be used as hints for suspecting a RASopathy during the first months of life, and individual RASopathies may be suspected by analysis of specific clinical signs. In the first year of life, these include congenital heart defects, severity of feeding difficulties and delay of developmental milestones, hair and skin anomalies, which may help to distinguish different entities, for their subsequent molecular confirmation and appropriate clinical management." @default.
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• W2046775217 date "2010-01-01" @default.
• W2046775217 modified "2023-10-14" @default.
• W2046775217 title "RASopathies: Clinical Diagnosis in the First Year of Life" @default.
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• W2046775217 doi "https://doi.org/10.1159/000331266" @default.
• W2046775217 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3214957" @default.
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