The results of a chromosome survey of 3993 liveborn infants, the majority of which have been studied using G-banding, are reported. The frequency of all types of chromosome abnormalities detected was similar to that found in previous newborn surveys, which were carried out on different socio-economic structure, but the incidence of aneuploid chromosome abnormalities was comparable in the two localities.

ExtractCeliac disease provides a model for investigation of one form of infantile malnutrition occurring under fully controlled circumstances. Thirteen patients aged 9-15 months were followed for a period of at least 3 years while they were on a strict gluten-free diet.Observed values for height, weight, bone age, metacarpal diameter, and cortical thickness are compared with the normal range based on local standards, and the results are expressed as standard scores. The mean curves of these data are presented in Figures 1 and 2. At the time of diagnosis and the beginning of diet (zero time), all variables were retarded, and standard scores were significantly below normal in height (P < 0.01), weight (P < 0.001), bone age (P < 0.01), metacarpal cortex (P < 0.05), and diameter (P < 0.001). Weight was significantly more depressed than height (P < 0.01), bone age (P < 0.001), metacarpal cortex (P < 0.001), and diameter (P < 0.001). Height was significantly more depressed than bone age (P < 0.05). As the patients recovered, weight caught up faster than the other measurements; weight was not significantly below normal after the patients had been on a gluten-free diet for 6 months and it reached normal values between 6 months and 1 year after initiation of diet. Height and bone age did not reach normal levels until after 2 years of treatment, although the values were no longer significantly depressed after 1 year on the diet. Cortical thickness was no longer significantly depressed after 6 months on the diet; it reached normal values by 6 months to 1 year after initiation of diet, and then showed an overshooting type of catch-up with values remaining significantly elevated at 2 years (P < 0.05) and 3 years (P < 0.05) after the onset of diet. Metacarpal diameter showed a slow steady catch-up growth which remained below normal throughout the follow-up period although the values were no longer significantly below normal 3 years after patients had begun diet.The study provides evidence that children aged 1 year (±3 months) who suffer from malnutrition caused by celiac disease catch up completely in weight, height, bone age, and metacarpal cortical thickness during a dietary treatment period of 3 years. SpeculationPoor physical growth resulting from this type and this degree of malnutrition in the second half of the 1st year of life is completely remediable. Permanent somatic sequelae from a similar severity of late infantile malnutrition in underdeveloped countries, therefore, might not be inevitable, provided that the therapeutic program is optimal and adverse factors do not continue to operate.

The pseudohypoparathyroid disorders appear to represent a heterogeneous group with GNAS1 mutations forming the molecular aetiology in approximately 50% of pseudohypoparathyroidism type Ia families. Such mutations can be reliably identified by single-stranded conformational polymorphism and this will help to supplement the clinical evaluation of some patients and their families, particularly as the disease may not be fully penetrant.

An infant with the characteristic