Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome | |
---|---|
Other names | Suarez-Stickler syndrome |
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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]
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cite web}}
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{{
cite journal}}
: CS1 maint: DOI inactive as of January 2024 (
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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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite journal}}
: CS1 maint: DOI inactive as of January 2024 (
link)