| Findings: Pelvis X-ray:
1. Hypogenesis and deformity of sacrococcygeal spine with right
side curvilineal deviation (red line in fig.01), in favor of
caudal regression syndrome (mild form). MRI of pelvis and spine: 1. Marked short T1 signal along thick filum terminale with slight
downward displacement of conus medullaris to the level of
L2/3, suggesting fibrolipoma of the filum terminale with
tethered cord (fig.02).
2. Mild dilatation of central canal of spine along T10-L1,
in favor of hydromyelia (fig.03).
3. Saddle-shaped thickening of the fundus of uterus with normal
fundal external contour and with mild increased transverse
diameter of uterine cavity, in favor of arcuate uterus (fig.04). Impression:
1. Fibrolipoma of the filum terminale with tethered cord
and hydromyelia.
2. Caudal regression syndrome with hypogenesis and deformity of
sacrococcygeal spine.
3. Arcuate uterus. Chromosome analysis: Terminal deletion of the chromosome 7q36 (not showed). | 
071002 TERMINAL DELETION OF THE CHROMOSOME 7Q36 WITH FIBROLIPOMA OF THE FILUM TERMINALE AND CAUDAL REGRESSION SYNDROME
