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segmental spinal dysgenesis (SSD) fetal ultrasound
BY DR NAJMA AIJAZ
dysgenesis of the lumbosacral region .
Here’s a breakdown to support why this is not
rachischisis totalis:
Rachischisis totalis involves complete failure
of neural tube closure, with the entire spinal
cord exposed and undeveloped
- It is typically associated with iniencephaly,
characterized by extreme retroflexion of the
head, a short spine, and absence of the neck-
none of which are seen here.
In contrast, this case fits the features of
segmental spinal dysgenesis (SSD): - A rare, non-lethal congenital anomaly
Characterized by focal agenesis or
dysgenesis of the spinal cord and/or vertebral
column, usually in the thoracolumbar or
lumbosacral region
‣ In SSD, only a portion of the spinal cord is
affected, not the entire length
This distinction supports the interpretation that
this is a case of SSD rather than rachischisis
totalis.
