Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagn...

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Bibliographic Details
Main Authors: Silvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, Giorgia Bottaro, Antonio Novelli, Sandro Loche, Marco Cappa
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Endocrinology
Subjects:
IGF2 variant
Silver-Russel syndrome
children
growth retardation
GH therapy
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1364234/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2024.1364234/full

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