Further delineation of the C (trigonocephaly) syndrome.

This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur. Consistent neurological findings are hypotonia, strabismus, and psychomotor retardation; seizures have been reported. Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective central nervous system myelination. About 1/2 of the case have died within the first year. All survivors have severe to profound mental retardation except for one child who has moderate retardation.

[Intracranial Hemangiopericytoma in a newborn (author's transl)]. / Uber ein intrakranielles Hämangioperizytom beim Neugeborenen.

Report of a large, congenital hemangiopericytoma in a male neonate. The classification of these tumours is discussed. This is the first case, to date, of a tumour of this size, found intracranially.

[Prophylactic examination of infants (author's transl)]. / Vorsorgeuntersuchungen im Kleinkindesalter

In the mid sixties a medical work group developed a prophylactic programme for children which provided for repeated checkups to detect particularly those defects which are likely to seriously jeopardise the physical and mental development of the child. For the selection of the checkup dates that age of the child was decisive in which it was possible to inspect certain functional events. Since such examination programmes had to cover an entire class, a prerequisite to be met was to choose an as large a number of examiners as possible. This meant the prescription of methods of examination which were applicable to any private or paediatric practice. In view of the fact that the child's health is subject to quick changes it can never be the objective of such programmes to establish acute syndromes and detailed examination findings but to restrict prophylaxis to a selection of important diseases. Thus the medical objective remains limited to readily recognizable disturbances which undetected could severely interfere with the development of the child. It is also decisive for the extent of the examination that it is restricted to the search for such development disturbances as can be remedied effectively. A prerequisite for the effectiveness of the programme is the identity of examinations and the uniform documentation of the findings according to a compulsory scheme. These records will accompany the child during his first years of life. The examination book remains in the hands of the mother and is submitted to the physician at the time of a checkup so that the continuity in the establishment of findings is ensured even when the physician is changed. This prophylactic programme, which was introduced by the author to the German public in 1968, was meanwhile implemented and adopted by the German Social Sickness Fund by virtue of a Federal Act effective as on July 1st, 1971. At present the examination comprises 7 checkups during the first 4 years of life. Emphasis lies on the check for cerebral motor disturbances, congenital heart diseases, skeletal anomalies, metabolic disorders, auditory, logopaedic and visual defects and others. A report is given on the results, the critical evaluation and the possibility of improving the prophylactic programme.