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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
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]
References [ edit ]
^ "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia (Concept Id: C1858032) - MedGen - NCBI" . www.ncbi.nlm.nih.gov . Retrieved 2022-07-15 .
^ "Entry - 604922 - Cortical defects, wormian bones, and dentinogenesis imperfecta - OMIM" . omim.org . Retrieved 2022-07-15 .
^ Moog, U.; Maroteaux, P.; Schrander-Stumpel, C. T. R. M.; Ooij, A. van; Schrander, J. J. P.; Fryns, J. P. (1999-11-01). "Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?" . Journal of Medical Genetics . 36 (11 ): 856–858. doi :10.1136/jmg.36.11.856 (inactive 31 January 2024). ISSN 0022-2593 . PMC 1734253 . PMID 10544232 . {{cite journal }}
: CS1 maint: DOI inactive as of January 2024 (link )
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