Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right si...

AIMS To ascertain the long term outcomes in children diagnosed as having failure to thrive (FTT). METHODS Systematic review of cohort studies. Medline, Psychinfo, Embase, Cinahl, Web of Science, Cochrane, and DARE databases were searched for potentially relevant studies. INCLUSION CRITERIA cohort studies or randomised controlled trials in children <2 years old with failure to thrive defined...

OBJECTIVES To assess the effect of timing of folic acid (FA) supplementation during pregnancy on the risk of the neonate being small for gestational age (SGA). DESIGN A population database study and a systematic review with meta-analysis including the results of this population study. SETTING AND DATA SOURCES A UK regional database was used for the population study and an electronic literat...

OBJECTIVE To examine the relation between blood pressure and the development of early retinopathy in adolescents with childhood onset type 1 diabetes. DESIGN Prospective cohort study. SETTING Diabetes Complications Assessment Service at the Children's Hospital at Westmead, Sydney, Australia. PARTICIPANTS 1869 patients with type 1 diabetes (54% female) screened for retinopathy with baselin...

Purpose Abnormalities in serum magnesium levels have been seen in obesity and its related diseases. Our aim is to determine the mean magnesium levels in overweight and obese children as compared to the levels in normal weight controls to study its relationship with obesity and overweight. The study was done at a tertiary care hospital. Methods A case-control study was conducted at the Departmen...

OBJECTIVES To examine the clinical utility of the first-trimester biochemical markers of aneuploidy in their ability to predict subsequent delivery of a small-for-gestational age (SGA) infant. METHODS We examined singleton pregnancies with no chromosomal abnormality and with complete outcome data that had undergone screening for trisomy 21 by a combination of fetal nuchal translucency (NT) th...

OBJECTIVE To examine whether, in coronary patients after myocardial infarction, the dispersion of ventricular repolarisation measured through QT and JT intervals from a surface electrocardiogram could allow separation of those with ventricular tachyarrhythmias (VT) complicating their myocardial infarct from those without. DESIGN A retrospective comparative study. SETTING University hospital...

To the Editor Cardiofaciocutaneous syndrome (CFC) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay[1]. CFC is caused by mutations in BRAF, MEK1, MEK2, KRAS genes encoding proteins of the RAS/MAPK signaling pathway. In more than 70% of CFC patients, BRAF mutations are detected[2]. We present here a 10...

Iron deficiency anaemia is still a problem in childhood, and even mild anaemia may interfere with psychomotor development. Occasionally, very severe anaemia is seen in paediatric wards. We present an extreme example of anaemia secondary to dietary deficiency of iron. CASE REPORT: A three and a half year old girl was admitted with lethargy and extreme pallor. The history was of increasing lethar...