A boy now aged two years has a number of congenital defects, including mental deficiency, cerebral atrophy, spastic tetraplegia, low-set, malformed ears, dental abnormalities and malformations of the extremities. Chromosome studies have revealed a modal number of 47, the extra chromosome being a very small metacentric chromosome. The karyotypes of the parents and of a brother showed nothing abnormal.

SUMMARY A 32-day-old male infant had hypocalcaemic convulsions associated with asymptomatic maternal hyperparathyroidism. Very low total and ionised serum calcium, increased serum phosphate, and normal serum parathyroid hormone (PTH) and The coefficient of variation of the assay was 8-9 % for values found in our study. All other estimations were carried out by routine laboratory methods. The range of normal serum values shown in the Fig. is unfortunately from infants one week old, because only an insignificant number of sera from normal infants aged 4-10 weeks were available for determination of normal ranges.Case report A male infant was born at term (birthweight 2500 g) to a 26-year-old mother who had had one abortion and one preterm delivery 2 and 3 years before, respectively. Pregnancy and delivery were uneventful and the mother took no drugs. Both parents were Pakistani workers. When the mother's milk disappeared in the second week of life, the infant was given Allomin 14%, containing 360 mg calcium, 380 mg phosphate, and 335 IU vitamin D per 1000 calories. A vitamin D supplement of 600 IU per day was given from the third week of life.At 32 days of age he was admitted because of numerous convulsions during the previous 2 days. He weighed 3200 g, was hypertonic with hyperreflexia and a positive Chvostek's sign, and no laryngeal spasm. The total serum Ca was very low,

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Summary The incidence of congenital extracardiac malformations in a series of 615 children with congenital heart diseases is found to be 11.4%, and in a series of autopsies of 1145 children with congenital heart diseases to be 13.4 %, in both materials excluding the diagnosis of mongolism as a malformation per se. No definite correlation has been found between a specific congenital heart disease and extracardiac malformations, yet atrial septal defects seem to be found more often than expected combined with harelip and cleft palate and ventricular septal defects with malformations of bones and joints and of lungs.

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