In the Republic of Ireland the birth incidence of type 1 mucopolysaccharidosis is one per 26,206, although in Irish Travellers this rose to 1 in 371.  Here.

In a cohort of 671 children followed to 14 years, genetic variants of cortisol pathways were a significant contributor to blood pressure variation.  Here.

73% of 102 newborn infants in this US series had some sort of facial asymmetry.  Here.

Reflex Sympathetic Dystrophy, now apparently known as Complex Regional Pain Syndrome Type I, was found in eight children from a tertiary metabolic clinic, and with features which may suggest mitochondrial disease.  Here.

I don’t usually blog review articles.  However, this one is a thing of beauty - and that’s not a phrase I use lightly.   If there is one paper you read this month, it should be this one… more…

A child presenting with unexplained fractures and skin lesions was subsequently demonstrated to have Job Syndrome. Here.

An Australian surveillance study over a four year period was able to identify 92 children under 15 years newly diagnosed with fetal alcohol syndrome. Here.