A familial case of cleidocranial dysostosis presenting upper limb ischemia
Keywords:
Cleidocranial dysplasia, Craniofacial dysostosis, Dysostosis, Mandibulofacial dysostosisAbstract
CONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleido-cranial dysostosis resulting in upper right limb ischemia is presented. This uncommon condi- tion is an exceedingly rare cause of vascular compression that gives rise to thrombosis of the axillary-subclavian arteries. Only two cases have previously been reported.
Downloads
References
Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999;36(3):177-82.
Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Genet.
;104(1):1-6.
Anspach WE, Huepel RC. Familial cleidocranial dysostosis (cleidal dysostosis). Am J Dis Child. 1939;58:786-98.
Short DW. A case of craniocleidal dysostosis presenting with vascular complications. Br J Surg. 1979;66(8):596-8.
Qureshi KN, Lees TA, Holdsworth J. Acute upper limbischemia resulting from cleidocranial dysostosis. J Vasc Surg. 1997;26(5):888-90.