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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Beemer Ertbruggen syndrome
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hydrocephalus, cardiac malformation, dense bones, etc
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lethal hydrocephalus-cardiac malformation-dense bones syndrome
exact
peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome
related