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

Autor:	J R Maclean, R. B. Lowry, B. J. Wood
Rok vydání:	2008
Předmět:	Autosomal dominant trait Anatomy Biology medicine.disease Osteochondrodysplasia Grant syndrome Hypoplasia Campomelic dysplasia Osteogenesis imperfecta Genetics medicine Wormian bones Blue sclerae Genetics (clinical)
Zdroj:	Clinical Genetics. 29:523-529
ISSN:	1399-0004 0009-9163
DOI:	10.1111/j.1399-0004.1986.tb00554.x
Popis:	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".
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::fc3888ee29f9cafe99b91ee0515165e9 https://doi.org/10.1111/j.1399-0004.1986.tb00554.x Zobrazit plný text záznamu Plný text