Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and developmen...

Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder. Pediatrics 2013;132:e1059–e1072

Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple fa...

Fragile X syndrome (an FMR1–related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple fa...

This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders.

Background In Ethiopia, one in 17 children dies before 1 year of age and one in 11 children dies before 5 years. Research that examines the factors influencing the implementation of the Integrated Management of Neonatal and Childhood Illnesses (IMNCI) strategy in Ethiopia is limited. This study aimed to identify the factors compelling the execution of IMNCI by nurses in four districts of West A...

Burn-related injuries are a significant burden in children, particularly in low- and middle-income countries (LMICs), where more than 90% of burn-related pediatric deaths occur. Lack of adult supervision of children is a major risk for pediatric burn injuries. The goal of this paper was to examine the general characteristics of burns and identify burn injury outcomes among adult-supervised chil...

Drowning represents the third leading cause of fatal unintentional injury in infants (0-1 years). The aim of this study is to investigate correlates of unsupervised bathing. This cross-sectional study included 1,410 parents with an infant. Parents completed a questionnaire regarding supervision during bathing, socio-demographic factors, and Protection Motivation Theory-constructs. To determine ...