We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome. The male infant presented with fetal distress requiring premature delivery at 32 weeks and was noted to have dysmorphic features, edema, hepatosplenomegaly, leukocytosis, thrombocytopenia, and respiratory distress following birth.
View Article and Find Full Text PDFBackground: Opioid analgesia is commonly used during neonatal intensive care. We undertook the Neurologic Outcomes and Pre-emptive Analgesia in Neonates (NEOPAIN) trial to investigate whether pre-emptive morphine analgesia decreases the rate of a composite primary outcome of neonatal death, severe intraventricular haemorrhage (IVH), and periventricular leucomalacia (PVL) in preterm neonates.
Methods: Ventilated preterm neonates (n=898) from 16 centres were randomly assigned masked placebo (n=449) or morphine (n=449) infusions.
Objective: To review the available evidence on the association between primary short stature and intellectual and physical dysfunction among children.
Methods: Systematic searches were performed through October 2001 of English-language studies of children with short stature and functional limitations. Included studies evaluated children with isolated short stature, constitutional growth delay, growth hormone deficiency, or multiple hormone deficiency.