A FURTHER REPORT OF BRACHMANN-DELANGE-SYNDROME IN 2 SIBS WITH NORMAL PARENTS

We report on a family in which a girl and a boy in the same sibship sh ow variable manifestations of a less severe type of Brachmann-de Lange syndrome without significant prenatal growth deficiency and reduction deformities of the forearms. Both parents are healthy and phenotypica lly normal, and no other family members are affected. All the affected sibs except one described so far with normal parents presented the se vere type of Brachmann-de Lange syndrome (now sometimes classified as type I: ''classic'' or ''full'' Brachmann-de Lange syndrome), with maj or upper limb anomalies, severe growth and mental retardation and, fre quently, early death. We discuss the possible role of genomic imprinti ng in the etiology of this syndrome.