March 26 2000

Signs & Symptoms

- Failure to thrive (she should not still be considered that as she has made huge gains in the last few months)
- Mildly globally delayed, mostly gross motor due to hypotonia
- Small, low, slightly rotated ears
- No bridge in her small, slightly upturned nose
- 2 very deep dimples at top of her bottom
- Syrinx of the distal spinal cord at least to the level of T9
- 3 middle toes seem to come out of the same socket on both feet

Testing done to date:
Williams Syndrome has been ruled out
Downs Syndrome has been ruled out through a wide spectrum test
Swallow study ok
Empty study - ok
PH Probe - severe reflux
- Normal MRI of head and neck

Contact: Brenda mom to Haley at  brenda75@plateautel.net  

Any troubles with e-mails send to swanusa@undiagnosed-usa.org