Sickle cell disease is an inherited monogenic disease. The most frequent form is due to a homozygous mutation in the S allele that encodes haemoglobin S. Its clinical course, while highly variable, is characterised by chronic haemolytic anaemia and vaso-occlusive events leading to early multiorgan failure. We present the case of a 7-month-old infant who was brought to the emergency department b...

Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" and a more common but genetically heterogenous nonrhizomelic type (referred to by some authors as "Conradi-Hünermann (CH) type"). The former is typically lethal, manifesting serious anomalies, and allowing several instances of confident prenatal diagnosis. The latter being...

Osteopenia of prematurity and neonatal metabolic bone disease are terms used to describe the reduced skeletal mineralization seen in preterm babies at term as compared with those who have remained in utero. During the last trimester of pregnancy there is a rapid accretion of calcium and phosphorus due to active transport across the placenta(l). The osteopenia makes the preterm newborn more susc...

A case is presented in which an infant required extraction of 2 residual neonatal teeth. Some authors suggest routine curettage of the extraction sites of natal and neonatal teeth to prevent the development of residual teeth. In light of the rare occurrence of such residual teeth, this may represent overtreatment. Curettage at the time of extraction is recommended only in cases where the admini...

We have analysed the patterns of management of developmental dysplasia of the hip (DDH) in Coventry over a period of 20 years during which three different screening policies were used. From 1976 to the end of 1985 we relied on clinical examination alone. The mean surgical cost for the treatment of DDH during this period was Pound Sterling 5110 per 1000 live births. This was reduced to Pound Ste...

In Bangladesh, high proportions of infant deaths (two-thirds) and deaths among children aged less than five years (38%) occur in the neonatal period. Although most of these deaths occur at home due to preventable causes, little is known about routine domiciliary newborn-care practices and care-seeking for neonatal illness. As an initial step in strategic planning for the implementation of inter...

Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to d...

BACKGROUND This study was planned to determine the rate, the predisposing factors, and the outcome of retinopathy of prematurity (ROP) in very low birth weight (VLBW) infants hospitalized in the neonatal intensive care unit (NICU) of a tertiary care hospital in Tehran.  METHODS All VLBW neonates admitted to the NICU, from April 2007 through March 2010 were enrolled. All relevant perinatal dat...