Connective tissue diseases
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Connective tissue diseases, also connective tissue disorders, are infrequently seen by pathologists.
They may be very important in the context of forensic pathology, as they may be an explanation for multiple fractures
Specific entities
Ehlers-Danlos syndrome
Main article: Ehlers-Danlos syndrome
Marfan syndrome
Main article: Marfan syndrome
Osteogenesis imperfecta
- Abbreviated OI.
General
- Rare.
- Numerous subtypes - mild-to-severe symptoms/survival.
- May be misdiagnosed as child abuse.[1]
Clinical:
- +/-Blue sclerae.[2]
- Multiple fractures.
General
- Classic - tibial bowing (saber shins).[3]
Microscopic
Features:[3]
- Abundant plump osteoblasts (infants only).
- Paucity of bony matrix.
- Premature calcification of osteoid.
Images:
See also
References
- ↑ Singh Kocher, M.; Dichtel, L. (Nov 2011). "Osteogenesis imperfecta misdiagnosed as child abuse.". J Pediatr Orthop B 20 (6): 440-3. doi:10.1097/BPB.0b013e328347a2e1. PMID 21716141.
- ↑ Smith, R.; Francis, MJ.; Bauze, RJ. (Oct 1975). "Osteogenesis imperfecta. A clinical and biochemical study of a generalized connective tissue disorder.". Q J Med 44 (176): 555-73. PMID 1202551.
- ↑ 3.0 3.1 Milgram, JW.; Flick, MR.; Engh, CA. (Apr 1973). "Osteogenesis imperfecta. A histopathological case report.". J Bone Joint Surg Am 55 (3): 506-15. PMID 4703203.