New case of Cole-Carpenter syndrome.
We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.
Amor
D J
DJ
Victorian Clinical Genetics Service, Royal Children's Hospital, Australia. amord@cryptic.rch.unimelb.edu.au
Savarirayan
R
R
Schneider
A S
AS
Bankier
A
A
D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000151:congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D013577:Syndrome