Jürgen W. Spranger

TL;DR: An infant with the campomelic syndrome presents at birth with spectacularly short and bowed femora and tibiae, and internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects, hydroureter and hydronephrosis, renal hypoplasia, renal hyperplasia, and rarely renal cysts.

TL;DR: Prevalence rates of birth defects in the Federal Republic of Germany are informative to assess the general background risk of having a child with a birth defect and populations at risk for the occurrence of major malformation can be identified.

TL;DR: This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) focusing on diagnostically essential radiographic and clinical features.

TL;DR: Phosphorylated osteopontin, a protein involved in bone re absorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals and case-derived dendritic cells exhibit an altered cytokine profile and are more potent than matched control cells in stimulating allogeneic T cell proliferation in mixed lymphocyte reactions.

TL;DR: It is hypothesized that the basic metabolic lesion in mucolipidosis I lies in a defective degradation of sialic acid-containing compounds due to the genetic deficiency of a neuraminidase.