The neonatal progeroid syndrome represents a complex of symptoms with unknown cause and pathogenesis. At 37 weeks of uncomplicated pregnancy a boy of non-consanguineous turkish parents was delivered by section. The weight of 1740 g and the length of 43 cm were striking, the circumference of the head was still within normal range. Further on the patient showed the diagnostic criteria of Wiedemann-Rautenstrauch syndrome: Beside growth failure and nearly absence of subcutaneous fat, old-looking face with hydrocephalic appearance, prominent scalp veins and sparse scalp hair, large hands and feet with long fingers and toes were found. Neonatal teeth didn't exist. But neonatal teeth are not always present in this syndrome. Among 19 published cases they were also not described in 6 cases (31.6%). Cataract was not found. A skin biopsy taken at the age of four months revealed an extremely thin dermis with pronounced rarefication of elastic material by light microscopy. On the electron microscopical level, no qualitative morphological aberrations or signs of degeneration were found, but normal although very small elastic fibres. With increasing age the appearance was nearly unchanged. In spite of high-caloric nutrition the increase of weight was not sufficient. The clinical symptoms of this patients were compared with the 19 already published cases of Wiedemann-Rautenstrauch syndrome. This shall be a contribution to the exact description of that extremely rare syndrome. We hope to facilitate, that hereby the differential diagnosis in difficult cases will be more easy. Because of heterogeneity it has to discuss if the Wiedemann-Rautenstrauch syndrome really represents a separate genetic entity within the group of premature aging syndromes.

Biopsy↗

PubMedDate not supplied

[Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)].

Main diagnostic criteria of neonatal progeroid syndrome are: failure to thrive and lipoatrophy, old-looking face with hydrocephalic appearance, prominent scalp veins and sparse scalp hair, large hands and feet with long fingers and toes, often neonatal teeth. NPS is usually lethal by 7 months. 5 pairs of siblings with NPS are already published. We present the second report worldwide of two siblings with NPS actually at the age of 5 and 15 years.

Abnormalities, Multiple↗

PubMedDate not supplied

[Children of diabetic parents--on the question of developmental disorders in pregnancy with special reference to the so-called risk child].

On the basis of 3 different patient collectives the question of the birthweight of infants with one diabetic parent is considered, and in particular whether paternal diabetes is a causative factor in the birth of macrosomatic children. Diabetes in more distant relatives is also discussed. It is confirmed that there is a relationship between diabetic metabolism of the mother and macrosomatia of the newborn; however, no influence of paternal diabetes on the birthweight of the children can be found. According to this study, miscarriages and stillbirths are more frequent in women with diabetes mellitus than in the general population. The need for intensive monitoring of the metabolism of (pre)diabetic women during pregnancy is pointed out.

Abortion, Spontaneous↗