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We report on two Dutch sibs with external anomalies compatible with Bartsocas–Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients. © 1994 Wiley-Liss, Inc.

Background: Infant mortality of ethnic minorities in The Netherlands (10% of the population) is twice as high as in the indigenous Dutch population. Causes of death are different for the diverse migrant groups. Methods: Hospital records of nearly 600 infants who died in the four major cities between 1995 and 1998 were analysed according to the cause of death, ethnicity, and possible hereditarity. Results: There was a four to five times higher proportion of hereditary causes of death in the Moroccan and Turkish population, compared with the Surinamese/Antillians and indigenous Dutch. Conclusions: This might be explained by a high inbreeding coefficient as three-quarters of the marriage partners are recruited from the home villages and between a quarter and a third of these marriages are between first cousins. Health promotion activities in The Netherlands have not been successful so far. Preconception genetic counselling might help in reducing these differences.

A 5-year-old boy known to have tuberous sclerosis was admitted with an abdominal aortic aneurysm. The aneurysm was resected and replaced by a bifurcation prosthesis. Follow-up, which amounts up to 4 years, has been uneventful. Prompt recognition and surgical treatment are essential in the management of this rare but potentially lethal condition.

A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.

Thymic biopsies from two patients with combined immunodeficiency and defective expression of HLA class I and class II antigens on blood mononuclear cells (“bare lymphocyte” syndrome) were investigated. This made possible an evaluation of the significance of HLA antigen expression in a detailed (immuno)histologic study. Both thymuses showed a normal lobular architecture with distinct cortex-medulla areas, well-differentiated epithelium, including ultrastructurally defined subtypes, and Hassall's corpuscles. Normal numbers of lymphoid cells were present and normal T-cell phenotype was found. Using anti-HLA-A,B,C antisera, confluent staining of the medulla (stroma and lymphocytes) was observed. One of the thymuses was found to be negative for HLA class II antigen expression: the other revealed only HLA-DR positivity of nonlymphoid cells in the medulla. These cells were not of epithelial nature as judged from double staining with anti-keratin antibody. There was no expression of HLA-DC/DS. These observations differ from findings in the normal thymus, wherein epithelial cells in the cortex carry HLA class I and class II antigens, and epithelial cells in the medulla express HLA class I, and for a minor part class II antigens. The results indicate a normal sequential acquisition of T-cell differentiation antigens in the thymus of both cases. It is suggested that the expression of HLA class I and class II antigens on epithelial cells in the normal thymus cortex does not play a significant role in the sequential acquisition of differentiation antigens on T lymphocytes.

To evaluate the relationship between histologic parameters and clinical data, we studied thymus histology in 234 fetuses and young children who died after a short period of acute illness. Thymus weight and volume percentages of interstitium, cortex, and medulla were significantly related to prenatal or postnatal status and age of the patient. Thymus weight was related to the duration of acute illness only in prenatal patients. The histology, categorized in five grades according to appearance of macrophages (with a starry-sky aspect) in the cortex, increase of inter-lobular interstitium, and lymphodepletion of the cortex, correlated significantly with the duration of acute illness and not with any other clinical parameter. This finding enables the pathologist to estimate the duration of acute disease before death.