The participant was born at full term with no complications during pregnancy. He had jaundice during the neonatal period, which was treated with a Biliblanket. At 2 months of age, his pediatrician noticed a decline in weight gain and diagnosed him with failure to thrive. The participant was followed for … read more
The participant was referred to the UDN due to a complex history including tall stature, recurrent joint pain (arthralgia), and immune deficiency. She also has back pain and was previously been found to have Bertolotti syndrome and slipped vertebrae (spondylolisthesis). At 5 years old, she was found to have inflammation … read more
The participant had normal development until about 6 years. Around that time, her development plateaued. At age 9 she began having seizures, which have worsened over time. The participant has some brain abnormalities (cortical dysplasia and an EEG with generalized slow activity); however, clinicians do not believe these findings explain … read more
