Table 1.

Summary of diagnostic examination results

Test	Results
Abdominal ultrasound	Unremarkable right hepatic lobe, gallbladder, spleen, and kidneys; non-visualized left lobe of the liver and pancreas
Chromosomal analysis	Normal female (46, XX)
2D Echocardiogram	No structural heart problems
Otoacoustic emissions test (OAE)	Hearing loss, bilateral
Skeletal survey at 6 years of age (Figures 3 and 4)	Sclerosis in the base of the skull Sclerotic changes in the C1 and C2 vertebral bodies Thoracolumbar dextroscoliosis 13 pairs of ribs Cortical thinning and shortening of the proximal end of the bilateral fibula Cystic lucencies at the base of the metacarpals