Familial hypercholesterolaemia: pilot study to identify children at risk.

Aims: To evaluate a more effective method of identifying children with familial hypercholesterolaemia by screening a population at high risk.

Methods: Domiciliary measurement of random cholesterol concentration was made in 200 children who were first or second degree relatives of subjects with premature onset coronary artery disease. Measurements were taken by a health visitor using a portable analyser.

Height and body proportions in child abuse.

Abused children are said to retain 'infantile body proportions'. The presenting height, sitting height, and leg length standard deviation scores of 91 victims have been calculated from data derived from a study of local inner city schoolchildren. In the study population 31/91 (34%) were significantly short and all but two of these had relatively shorter legs than backs, this limb disproportion being significant in 17.

Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death.

We report a family in whom a fatal case of medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.

The Kaufman-McKusick syndrome: another association.

A male infant with features of the Kaufman-McKusick syndrome and a previously unstated association with Hirschsprung's disease is described.