Synonyms: Lethal hydrocephalus-cardiac malformation-dense bones 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. There have been no further descriptions in the literature since 1984.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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