Publications by authors named "Antonio Federico Martinez-Monseny"
Introduction: Sotos Syndrome (SS, OMIM#117550) is a heterogeneous genetic condition, recognized by three main clinical features present in most cases: overgrowth with macrocephaly, typical facial appearance and different degrees of intellectual disability. Three different types are described caused by variants or deletions/duplications in and genes. We aimed to describe a cohort of pediatric patients reporting the typical and unexpected findings in order to expand the phenotype of this syndrome and trying to find genotype-phenotype correlations.
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- - Tenorio syndrome (TNORS) is a recently identified genetic disorder characterized by symptoms such as macrocephaly, intellectual disability, hypotonia, enlarged ventricles, and autoimmune diseases, with few cases documented so far.
- - The underlying genetic issues include missense variants and a large deletion in the RNF125 gene, which is important for protein regulation, and further investigations have identified 14 new cases, enriching the understanding of the syndrome's clinical features.
- - While not all patients exhibited significant overgrowth, a common trend among them includes neurodevelopmental challenges and macrocephaly, with families showing varying severity of symptoms, indicating a need for more research on the syndrome's genetics and clinical presentation.
Background And Aims: Postnatal growth restriction remains a serious problem in very low-birth-weight infants. Enhanced parenteral supply of nutrients as soon as possible after birth is one of the strategies addressed to avoid extrauterine growth restriction. We aimed to analyze changes in growth patterns and in clinical outcomes in our unit after a change in our parenteral nutrition (PN) protocol.
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