Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

In contrast to adults, cardiac arrest in infants and children does not usually result from a
primary cardiac cause. More often it is the terminal result of progressive respiratory failure or …

It has been 50 years since Francis Fontan pioneered the operation that today bears his
name. Initially designed for patients with tricuspid atresia, this procedure is now offered for a …

Background—The goal of this statement was to review the available literature on
surveillance, screening, evaluation, and management strategies and put forward a scientific …

Noonan and LEOPARD syndromes are developmental disorders with overlapping features,
including cardiac abnormalities, short stature and facial dysmorphia. Increased RAS …

The isotopic composition of atmospheric carbon dioxide provides an important constraint for
models of the global carbon cycle. It is shown that carbon in C4 plants preserves an isotopic …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via spontaneous …

From November 1988 to May 1989, four patients underwent total right heart bypass by
means of bidirectional cavopulmonary anastomosis and interposition of an extracardiac …

Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction
abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of …

Abstract Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal
dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails …