0000000000405948
AUTHOR
Piccione M.
Facio-auricle-vertebral spectrum (Goldenhar's syndrome): Clinical study of 10 pediatric patients
Goldenhar's syndrome - also known as facio-auricolo-vertebral spectrum - is due to a developmental defect of cranio-facial and vertebral structures, and is interpreted as a disruption. Exogenous factors, such as gestational diabetes or ovopathies, have been involved in its aetiology. The pathogenesis of Goldenhar's syndrome seems to be vascular in most of cases, due to the interruption of blood supply to the branchial and vertebral areas during embryonic development. Ten cases of facio-auricolo-vertebral spectrum of different ages are described, in view of a better delineation of its phenotype. This report can contribute to a better knowledge of the phenotype of facio-auricolo-vertebral spe…
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinical diagnosis comprised in the so-called chromatinopathies. Such conditions, including WDSTS, are a group of overlapping disorders caused by mutations in genes coding for the epigenetic machinery. Among them, Rubinstein–Taybi syndrome (RSTS) is mainly caused by heterozygous pathogenic variants in CREBBP or EP300. In this work, we used next generati…