[Beta mannosidosis: a new case].

Background: Only 11 cases of beta mannosidase deficiency have been reported until now. We report a new case.

Case History: J was born at full term to consanguineous parents; her weight was 2,080 g and her height was 44 cm.

Improvement of diabetic control and acceptability of a three-injection insulin regimen in diabetic adolescents. A multicenter controlled study.

Objective: To compare the effectiveness and acceptability of a three-injection insulin regimen with the conventional two-injection therapy in an unselected population of diabetic adolescents.

Research Design And Methods: Some 205 patients aged 10-18 yr with IDDM, who were previously treated with two daily insulin injections, were included without any selection into a randomized trial. They were either switched to three (regular prebreakfast, regular prelunch, and [regular+ultralente] predinner) or remained on two ([regular+intermediary] prebreakfast and predinner) subcutaneous injections.

Trisomy 18q-. Trisomy mapping of chromosome 18 revisited.

Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less sever vital prognosis.