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Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping c...

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Autores principales: Papadopoulou, Anna, Bountouvi, Evangelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641803/
https://www.ncbi.nlm.nih.gov/pubmed/37964950
http://dx.doi.org/10.3389/fendo.2023.1231828
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author Papadopoulou, Anna
Bountouvi, Evangelia
author_facet Papadopoulou, Anna
Bountouvi, Evangelia
author_sort Papadopoulou, Anna
collection PubMed
description Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping clinical features which, sometimes, become more pronounced with age. Distinctive face, cardiac and skeletal defects are among the primary abnormalities seen in these patients. Skeletal dysmorphisms range from mild to severe and may include anterior chest wall anomalies, scoliosis, kyphosis, short stature, hand anomalies, muscle weakness, osteopenia or/and osteoporosis. Patients usually have increased serum concentrations of bone resorption markers, while markers of bone formation are within normal range. The causative molecular defects encompass the members of the Ras/MAPK/ERK pathway and the adjacent cascades, important for the maintenance of normal bone homeostasis. It has been suggested that modulation of the expression of specific molecules involved in the processes of bone remodeling may affect the osteogenic fate decision, potentially, bringing out new pharmaceutical targets. Currently, the laboratory imprint of bone metabolism on the clinical picture of the affected individuals is not clear, maybe due to the rarity of these syndromes, the small number of the recruited patients and the methods used for the description of their clinical and biochemical profiles.
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spelling pubmed-106418032023-11-14 Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes Papadopoulou, Anna Bountouvi, Evangelia Front Endocrinol (Lausanne) Endocrinology Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping clinical features which, sometimes, become more pronounced with age. Distinctive face, cardiac and skeletal defects are among the primary abnormalities seen in these patients. Skeletal dysmorphisms range from mild to severe and may include anterior chest wall anomalies, scoliosis, kyphosis, short stature, hand anomalies, muscle weakness, osteopenia or/and osteoporosis. Patients usually have increased serum concentrations of bone resorption markers, while markers of bone formation are within normal range. The causative molecular defects encompass the members of the Ras/MAPK/ERK pathway and the adjacent cascades, important for the maintenance of normal bone homeostasis. It has been suggested that modulation of the expression of specific molecules involved in the processes of bone remodeling may affect the osteogenic fate decision, potentially, bringing out new pharmaceutical targets. Currently, the laboratory imprint of bone metabolism on the clinical picture of the affected individuals is not clear, maybe due to the rarity of these syndromes, the small number of the recruited patients and the methods used for the description of their clinical and biochemical profiles. Frontiers Media S.A. 2023-10-27 /pmc/articles/PMC10641803/ /pubmed/37964950 http://dx.doi.org/10.3389/fendo.2023.1231828 Text en Copyright © 2023 Papadopoulou and Bountouvi https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Papadopoulou, Anna
Bountouvi, Evangelia
Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
title Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
title_full Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
title_fullStr Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
title_full_unstemmed Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
title_short Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
title_sort skeletal defects and bone metabolism in noonan, costello and cardio-facio-cutaneous syndromes
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641803/
https://www.ncbi.nlm.nih.gov/pubmed/37964950
http://dx.doi.org/10.3389/fendo.2023.1231828
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