Van Der Hoeve Syndrome
The triad of blue sclerae, osteogenesis imperfecta and otosclerosis is found in a condition called Van Der Hoeve syndrome. Otosclerosis is a defect in the otic capsule which causes the footplate of the stapes to adhere tightly to the oval window. This fixation occurs due to abnormal bone growth in the otic capsule and it results in slowly progressive conductive deafness. This condition is also seen in association with osteogenesis imperfecta, a genetic disorder of defective type 1 collagen synthesis. Such children experience frequent fractures and poor teeth development. Their sclerae also appear blue because the underlying choroid pigment and choroidal veins can be seen through the thinned sclerae due to lack of enough collagen in it. Image via: https://orthopaedia.com/page/Osteogenesis-Imperfecta
I worked with osteogenesis imperfecta patients at Shriner's Hospital for 4 years. There is a range of severity from those who have no notable deformity to those who are very fragile. One patient broke a leg pedaling a big wheel trike. Children are so incredibly resilient and willing to do their best.
Ooh, I didn't know this triad had a specific name. Also nice to realize that it's conductive loss!
Hi My mother Age 54, she have blue sclera in one eye and redness in other eye and mixed hearing loss in both ears , and there is no fractures in her life time.these are symptoms of vam der hoeve syndrome ?? Kindly
Hi My mother Age 54, she have blue sclera in one eye and redness in other eye and mixed hearing loss in both ears , and there is no fractures in her life time.these are symptoms of vam der hoeve syndrome ?? Kindly answer