Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Pathogenic variants of polycomb repressive complex-2 (PRC2) subunits are associated with overgrowth syndromes and neurological diseases. EZH2 is a major component of PRC2 and mediates the methylation of H3K27 trimethylation (H3K27me3). Germline variants of EZH2 have been identified as a cause of Weaver syndrome (WS), an overgrowth/intellectual disability (OGID) syndrome characterized by overgrowth, macrocephaly, accelerated bone age, intellectual disability (ID), and characteristic facial features.

The prenatal causes of slight lateral ventricular enlargement in infants treated in a neonatal intensive care unit.

Objective: The aim of this study was to determine the prenatal causes of slight lateral ventricular enlargement in infants treated in a neonatal intensive care unit.

Methods: We examined 318 infants with a gestational age of at least 28 weeks who were treated in a neonatal intensive care unit. We investigated the relationships between slight lateral ventricular enlargement and prenatal factors.

Final adult height in long-term growth hormone-treated achondroplasia patients.

Unlabelled: The objective of this study was to evaluate the gain in final height of achondroplasia (ACH) patients with long-term growth hormone (GH) treatment. We analyzed medical data of 22 adult patients (8 males and 14 females) treated with GH at a dose of 0.05 mg/kg/day.