Pregnancy increases the risk of flare in patients with SLE and is associated with excess fetal morbidity and mortality.1 The ...
Bent bone dysplasia (BBD) is a perinatal-lethal skeletal disorder caused by pathogenic FGFR2 mutations that disrupt bone ...
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac ...
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Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart ...
Cafe-au-lait spots (CALS), also called cafe-au-lait macules, are uniformly pigmented light to dark brown spots on the skin that may be present at birth or develop in childhood 1. They usually appear ...
Babies whose primary diagnosis is prematurity and just need extra time in the hospital to grow and develop are cared for by Children's neonatologists in the NICUs at the University of Washington, ...
At Seattle Children’s, your baby is in the hands of a whole team of experienced specialists in high-risk newborn care. Our 48-bed Level IV NICU is designed as a safe, healing place, with wrap-around ...