A rare primary bone defect described only in a mother and her three daughters to date characterized by short stature hip dislocation minor vertebral and pelvic changes and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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