Saturday, January 7, 2012

I can't get a diagnois for my 3 yr old daughter any ideas? Please help!?

we have been to ortho, genetics, behavior and neurolgists. Presents with-leg pain accomanied by occasional limited mobility ociated with the pain, speech delay, regulatory & sensory disorder, acid reflux. sleep apnea, obesity(61lbs.) Height(104cm) head(53cm), behavior problems,numerous cafe-au-lait spots(not neurofibromaosis), palpebral fissures slightly upslanting,synophrys of the eyebrows, broad nasal bridge with epicanthal folds tip is slightly anteverted, long lashes, mild nasal mucosal edema, ears normal, chest & cardiac normal, generalized joint hyperextenibility and soft muscles, bilateral four finger lines, right proximal palmar crease is hypoplastic, lumbar lordosis, knock knee, neurologically tone decreased, mild dysmorphic appearance ,hirsutism, high arched palate, excessive thirst & urination. Already ruled out- Fragile X, Prader willie,DiGeorge, Angelman, and Bardet-Biedl Syndrome. Anyone have any ideas? No one will work with her behavior until diagnosis. Please help!!

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