Diagnosis Search
The parents of these children are anxiously searching for a diagnosis. If you have any information or suggestions you would like to share with them, please send an e-mail to diagnosis@specialchild.com. Please be sure to mention the name of the child you are referring to so that your message can be immediately forwarded to the parent. Thank you for taking the time to stop by - we appreciate your interest in helping parents with their search.
Trey and Jake Taylor, DOB 1/21/96
Features and Characteristics:
- Developmental delay
- No desire to be potty trained
- Low-set ears
- Enlarged head
- Broad forehead and nasal tip
- Blue sclera (white outer coat of the eyeball)
- Conical teeth (abnormal shape and wide-spaced)
- Knock knee deformities
- Small epiphyses (end of bone that forms a joint with other bones)
- Gaps between bones (in hips and legs)
- Cortical (outer part) thinning of his long bones
- Thinning of the cortex in his hands
- Mild skeletal manifestations
- Seizures (has constant seizure activity going on at all times)
- Respiratory problems (gets pneumonia often)
- Stiff muscles (he has trouble going up and down stairs and walking after getting up from a chair)
Testing with negative results:
- Chromosome analysis
Features and Characteristics:
- Developmental delay
- No desire to be potty trained
- Low-set ears
- Enlarged head
- Broad forehead and nasal tip
- Blue sclera (white outer coat of the eyeball)
- Conical teeth (abnormal shape and wide-spaced)
- Knock knee deformities
- Small epiphyses (end of bone that forms a joint with other bones)
- Gaps between bones (in hips and legs)
- Cortical (outer part) thinning of his long bones
- Thinning of the cortex in his hands
- Mild skeletal manifestations
- Bad nerve endings behind eyes (possible glaucoma)
Testing with negative results:
- Chromosome analysis
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