Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.

We report on four patients from three families, with similar radiological findings: absent (or severely delayed) ossification of vertebral bodies and associated anomalies. The babies were stillborn or died soon after birth of respiratory insufficiency. Two patients are sibs (female and male) born to first cousin Malian parents.

[Chondrodysplasia punctata and maternal alcohol intoxication. Apropos of 7 cases].

The authors report 7 cases of chondrodysplasia punctata in whom maternal alcohol intoxication was found. Most often, it consisted of chronic and confirmed alcoholism, except for the last case, in which an acute intoxication had occurred at about the 4th or 5th week of pregnancy. Clinically, the appearance of the children was evocative of fetal alcohol syndrome, except in the last case when, in contrast, the facial dysmorphy was very typical of chondrodysplasia punctata.