[Disorders of morphogenesis: genua recurvata as a deformity in various pathogenetic abnormality syndromes (Larsen syndrome, Greig polysyndactylia syndrome, partial trisomy 10q, myelomeningocele)].

Following the new classification of malformation syndromes genua recurvata in four newborns with pathogenetically different genetic syndromes (Larsen syndrome, Greig-polysyndactyly-syndrome, partial trisomy 10q and myelocele) have to be classified as a result of deformation. Genua recurvata in our patients are not symptoms caused by a specific syndrome, but have to be interpreted as a sequence.

Simultaneous demonstration of UV-type and ionizing radiation-type DNA repair by the nucleoid sedimentation technique.

The nucleoid sedimentation technique is one of the most sensitive methods for measuring DNA excision repair. With this technique, we have shown that both UV- and ionizing radiation-type repair (the latter induced by bleomycin) can be discriminated in HeLa and normal diploid cells using 1-beta-D-arabinofuranosylcytosine. The latter compound inhibits UV-type repair synthesis, and thus causes DNA breaks due to enzymic incision to persist, but has no effect on rejoining DNA after ionizing radiation-type damage.

The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities.

Successful treatment of pulmonary and cerebral aspergillosis in an immunosuppressed child.

A favourable outcome was observed in a 12 year-old boy who developed invasive pulmonary and cerebral aspergillosis during antineoplastic treatment for central nervous system relapse of acute lymphoblastic leukemia. Combination therapy with amphotericin B and 5-Fluorocytosine led to complete regression of pulmonary infiltrates. Despite enlargement of the cerebral lesion monitored by computerized tomography, no viable fungi were found in the completely resected abscess after a 4 weeks' course of antifungal treatment preceding neurosurgery.

Different sensitivity of diploid and trisomic cells from patients with Down syndrome mosaic after treatment with the trifunctional alkylating agent trenimon.

Normal and trisomic cells of patients with Down syndrome mosaic offer the unique possibility to study the effect of an additional chromosome no. 21 against an identical genetic background. Here we show that a significant increase in the frequency of Trenimon induced sister chromatid exchanges (SCEs) and chromosome aberrations can be found in trisomic lymphocytes and fibroblasts as compared to disomic cells.

Activity of rRNA genes in cells of a patient with Down syndrome mosaic.

Disomic and trisomic cells of a patient with Down syndrome mosaic were used to study the effect of the additional chromosome 21 against an identical genetic background. The frequency of AG staining and the participation in satellite associations were determined for each pair of acrocentric chromosomes. The additional chromosome 21 of the trisomic cells and its homologues proved to be regularly Ag positive.

Occurrence of M-proteins in the CSF of a child with prolonged meningococcal meningitis.

CSF of a 4-month-old boy with prolonged, meningococcal meningitis revealed oligoclonal immunoglobulin G about 10 weeks after hospital admission. These proteins persisted for at least 4 months. In contrast to this child, a further 10 infants and young children with bacterial meningitis, whose CSF was examined between 4 weeks and 6 3/4 months subsequent to onset of the disease, showed no such abnormality.

[The EEC-syndrome. Case report and some suggestions about its pathogenesis (author's transl)].

The clinical data of a boy with ectrodactyly, ectodermal dysplasia, and cleft lip and palate (EEC-syndrome) are presented. Until now about 80 case histories with this syndrome have been published, 30 of them having all 3 symptoms. The combination of defects in rather different organs of ectodermal as well as mesodermal origin is difficult to understand.

The Roberts' syndrome.

A report is given on a small-for-date male infant showing the following symptoms: bilateral aplasia of humerus, radius, and ulna, shortened femora, bilateral cleft lip and cleft palate, stigmata of dysmorphism, and notably; simple helix formation of the ear, simian crease, clinodactylia, bilateral clubfoot deformity, hypospadia, thrombocytopenia, micrognathia, and contractures in the knee joints. Postmortem autopsy revealed horsehoe kidney, ureterstenosis with hydronephrosis, persistent branchial arches, and absence of the knee joints. Chromosome analysis results performed by G-band technique turned out normal.