Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome
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| Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome | |
|---|---|
| Other names | Suarez-Stickler syndrome |
 | |
| Wavy defects of the tibial cortex and a lesion of the fibular cortex in a 4-and-a-half year old patient with Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome | |
| Specialty | Medical genetics |
| Symptoms | Bone abnormalities |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome is a rare genetic bone disorder which is characterized by the presence of wormian bones in the skull, dentinogenesis imperfecta, recurrent bone fractures, hypertelorism, and eye puffiness.[1][2] This disorder is unique from osteogenesis imperfecta because of the presence of cortical defects and the absence of defective collagen or osteopenia.[3] It is not exactly known whether this condition is autosomal dominant or autosomal recessive.
It has been described in 2 non-consanguineous families.[4][5]
