This qualitative study describes the impact of achondroplasia on the health-related quality of life (HR-QoL) of affected children and adolescents and on caregivers. Many individuals with achondroplasia, as well as caregivers, experience daily challenges, and require ongoing adaptations related to the condition, but also report some positive aspects living with achondroplasia. These findings underscore the importance of regular psychosocial assessments and the provision of psychosocial support to affected children and families.

The manuscript add information about differences and similarities between two populations of GT users, Italians and Germans, in terms of health-related behaviors, psychological characteristics and attitude towards genetic information.

The present case suggests that molecular genetic screening is useful for the diagnosis of developmental disorders, particularly in children with a positive family history. In the current patient all the related pathological variants were located within a narrow locus. This report expands the known manifestations of Robinow syndrome and contributes to refinement of its molecular basis.

As part of the Utah NeoSeq project, we used a research-based, rapid whole-genome sequencing (WGS) protocol to investigate the genomic etiology for a newborn with a left-sided congenital diaphragmatic hernia (CDH) and cardiac malformations, whose mother also had a history of CDH and atrial septal defect. Using both a novel, alignment-free and traditional alignment-based variant callers, we identified a maternally-inherited complex SV on chromosome 8, consisting of an inversion flanked by deletions. This complex inversion, further confirmed using orthogonal molecular techniques, disrupts the ZFPM2 gene, which is associated with both CDH and various congenital heart defects. Our results demonstrate that complex structural events, which often are unidentifiable or not reported by clinically validated testing procedures, can be discovered and accurately characterized with conventional, short-read sequencing and underscore the utility of WGS as a first-line diagnostic tool.