Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome

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Severe lateral tibial bowing with short stature is a rare genetic primary bent bone dysplasia characterized by significant uni-/bilateral lateral tibial bowing localized to the distal two-thirds of the tibia with respective cortical thickening and thinning of the inner and outer tibial curve loss of normal trabecular bone bilateral abnormalities of the tibial epiphyses and growth plates as well as foot abnormalities including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome?

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