CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma,
Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, …

CHARGE syndrome is a well‐characterized clinical diagnosis with recent data supporting a
genetic etiology. A 3‐year national surveillance coordinated by the Canadian Pediatric …

Dandy-Walker malformation (DWM; OMIM #220200) is a common but poorly understood
congenital cerebellar malformation in humans. Through physical mapping of 3q2 interstitial …

Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent
of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated …

CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular,
dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, …

Conventional genetic testing of individuals with neurodevelopmental presentations and
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants, leaves …

Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are Mendelian disorders
caused by mutations in subunits of the BAF chromatin remodeling complex. We report …

Diarrhea-positive hemolytic uremic syndrome (HUS) is a common cause of acute renal
failure in children. Diarrhea-negative (D−), or atypical HUS, is etiologically distinct. A Medline …

The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists.
The condition refers to an infant with generalized hypotonia presenting at birth or in early life. …