Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin– S iris syndrome ( CSS ), N icolaides– B araitser syndrome ( NCBRS ), and …

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed
osseous maturation, expressive-language deficits, and a distinctive facial appearance. …

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been
reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental …

Objective To provide recommendations to physicians, midwives, genetic counsellors, and
clinical laboratory scientists involved in pre-conceptional or prenatal care regarding carrier …

Background: Rare diseases often present in the first days and weeks of life and may require
complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive …

Objective: To develop a Canadian consensus document with recommendations on maternal
screening for fetal aneuploidy (eg, Down syndrome and trisomy 18) in pregnancy. Options: …

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study
of Kabuki syndrome had two objectives. The first was to further describe the syndrome …

Head circumference is used together with other measures as a proxy for central nervous
system damage in the diagnosis of fetal alcohol spectrum disorders, yet the relationship …

Genetic disorders are one of the leading causes of infant mortality and are frequent in neonatal
intensive care units (NICUs). Rapid genome-wide sequencing (GWS; whole genome or …