[Value of a phosphorus supplemented formula for premature infants]. / Intérêt d'une augmentation de l'apport phosphoré dans un lait pour le prématuré.

The fortuitous discovery of bone mineralization abnormalities in premature babies fed a medium chain triglyceride supplemented formula and exhibiting satisfactory weight gains prompted us to perform calcium and phosphorus balance studies. The infants studied had no major neonatal disorders and were not vitamin D-deficient. Urine assays detected no phosphorus and demonstrated an increase in calcium excretion, suggesting an inadequate phosphorus intake. This hypothesis was confirmed by the appearance of urinary phosphates with a decrease in calcium losses following supplementation of the formula with phosphorus.

Interstitial dup(1p) and severe intrauterine growth retardation.

An 1,860 g baby girl was born spontaneously after a 38 weeks pregnancy with important foetal hypotrophy and died at 6 weeks of life. She had an inverted duplication of a small part of the short arm of chromosome 1p:46, XX, inv dup(1) (pter p31::p11p13::p31 ter). This observation is compared to three others reported in the literature with intrachromosomal duplication of 1p.

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.