Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

A family is presented in which three of four siblings had truncus arteriosus and other anomalies compatible with the third and fourth pharyngeal pouch syndrome (DiGeorge syndrome). The syndrome is uncommon and most of the reported cases have been solitary. In this family an autosomal recessive inheritance is possible.

Primary cardiac tumours in infancy and childhood. A review and six case reports.

Primary cardiac tumours are rarities in infants and children. We have had 6 patients, aged 17 days to 10 years, with primary cardiac tumours: 1 had a fibroma, 1 had a myxoma, 2 had an haemangioma and 2 had a rhabdomyoma. Correct diagnosis was missed pre-operatively in 3 cases and finally established at autopsy.

Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.

We studied 21 patients with gyrate atrophy of the choroid and retina and hyperornithinemia. Although the patients were not weak, type 2 muscle fibers were almost universally atrophic and had tubular aggregates. Gyrate atrophy is the first disease in which females are shown to have tubular aggregates; the sexes were affected equally.

Atrial myxoma in a family.

A family is described in which the mother and three of seven children had atrial myxoma. The mother had biatrial myxoma; surgical treatment resulted in massive intraoperative embolization and death. Surgery was sucessful in two sons with left atrial myxoma and systemic arterial embolization.

Causes of death in transposition of the great arteris. A clinical and autopsy study of 140 cases.

The causes of death were assessed in 140 infants and children with transposition of the great arteries studied clinically and post mortem. Half of the children were under one month old. Death occurred during the first year of life in 118 cases.

Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome.

Mulibrey (muscle, liver, brain, eye) nanism is probably an autosomal recessive condition characterized by progressive growth failure of prenatal onset, triangular face with hydrocephaloid skull, general thinness and muscular hypotonicity, peculiar voice, venous congestion caused by pericardial constriction, and pigment dispersion and yellowish dots in ocular fundi. Two thirds of the patients had cutaneous nevi flammei and one third cystic fibrous dysplasia of the tibia. Probably a substantial portion of the affected are lost by early abortion and others by infantile death.