Trisomy 13: Survival beyond the NICU.

Trisomy 13 is the third most common autosomal aneuploidy disorder and is associated with a number of congenital malformations. Survival of infants with trisomy 13 has improved over time as life-prolonging technological interventions are more commonly offered. In this article, we describe the course of a child with trisomy 13 who has been followed at our hospital since infancy and explore the changing landscape of care for children with trisomy 13.

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

Congenital central hypoventilation syndrome (CCHS) is a disorder of ventilatory control and autonomic dysregulation that can be caused by mutations in the paired-like homeobox 2B (PHOX2B) gene. The majority of CCHS cases are caused by polyalanine repeat mutations (PARMs) in PHOX2B; however, in rare cases, non-polyalanine repeat mutations (NPARMs) have been identified. Here, we report two patients with NPARMs in PHOX2B.