The Grant syndrome. Persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia--an autosomal dominant trait.

Abstract

A father and daughter with apparently unique clinical findings are described. The findings include persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia. Apparently it is an autosomal dominant trait. Although the disorder is in the osteogenesis imperfecta group, nevertheless it appears to be different and until the basic defect is found we have named it "The Grant Syndrome".

• Authors: J R Maclean, R B Lowry, B J Wood
• Journal: Clinical genetics (Clin Genet) Vol. 29 Issue 6 Pg. 523-9 (Jun 1986) ISSN: 0009-9163 [Print] Denmark
• PMID: 3742858 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Child, Preschool
• Female
• Genes, Dominant
• Humans
• Leg (abnormalities)
• Male
• Mandible (abnormalities)
• Osteogenesis Imperfecta (genetics)
• Syndrome
• Terminology as Topic