Gross Motor Function of a Child With Antley-Bixler Syndrome

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Background and Purpose:

Antley-Bixler syndrome (ABS) is an exceptionally rare genetic disorder presenting multiple malformations of bone requiring extensive medical and surgical management for survival. Current literature focuses on medical and surgical care without an emphasis on (re)habilitation. This case report describes the physical therapy (PT) care of a child with particularly complex ABS.

Case Description:

The child was a 3-year-old girl with ABS with a significant developmental delay. She received PT between the ages of 12 and 36 months within a specialized long-term care facility.


After treatment, she demonstrated change in her ability to assume and maintain developmental positions as noted during annual examinations. The standardized assessment tool used failed to capture change in functional abilities.


Further research was recommended to guide clinical reasoning and determine effectiveness of PT for children with ABS.

Video Abstract:

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