4 Result(s)
within
Shubhika Srivastava
Pediatrics
-
Living Reference Work Entry In depth
Fetal Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a spectrum of congenital cardiac anomalies that result in the left ventricle being incapable of providing adequate systemic perfusion. This lesion is incompatible with...
-
Article
Open AccessFOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...
-
Article
Open AccessPhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of S...
-
Article
Imaging of congenital coronary artery anomalies
Imaging of the coronary arteries is an important part of the evaluation of children with congenital heart disease and isolated congenital coronary artery anomalies. Echocardiography remains the main imaging mo...
