Beemer-Ertbruggen syndrome

Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.

Also known as: lethal hydrocephalus-cardiac malformation-dense bones syndrome, Beemer Ertbruggen syndrome, Beemer lethal malformation syndrome, hydrocephalus, Cardiac malformation, dense bones, etc., hydrocephalus, cardiac malformation, dense bones, etc, peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome

0 clinical trials for this condition and its sub-types, 0 tagged with Beemer-Ertbruggen syndrome itself.