Jarcho-Levin syndrome

Case contributed by Fabien Ho , 17 Jan 2018
Diagnosis certain
Changed by Alexandra Stanislavsky, 18 Jan 2018

Updates to Case Attributes

Presentation was changed:
Incidental findings atRoutine second-trimester US screening. Normal NT, standardlow risk for downof Down syndrome. Non-consanguineous coupleparents. No peculiarspecific history.

Updates to Study Attributes

Findings was changed:

Thoracic spina bifida with myelomeningocele, complicated with ventriculomegaly (most likely a Chiari II).

CarefulThe examination of the thoracic vertebrae is abnormal, and this is much easier to see thanks toon the 3D ultrasound bone imaging.

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