# Hemivertebra with pathogenic microdeletion of chromosome 9

**Authors:** Yeshey Dorjey, Tashi Gyeltshen

PMC · DOI: 10.1002/ccr3.8750 · Clinical Case Reports · 2024-04-07

## TL;DR

Hemivertebra is a rare spinal birth defect, and its prognosis depends on the severity and presence of other abnormalities.

## Contribution

The paper highlights the importance of thorough prenatal screening for chromosomal abnormalities when hemivertebra is detected.

## Key findings

- Partial hemivertebra and single spinal defects have a better prognosis.
- Perinatal outcomes worsen when hemivertebra is associated with other syndromes or chromosomal abnormalities.
- Serial anatomical ultrasound and chromosomal screening are recommended during pregnancy.

## Abstract

Hemivertebra is a rare congenital abnormality of the spinal column. Hemivertebra with other structural and cytogenetic abnormalities are reported. The prognosis is favorable with partial hemivertebra and with a single spinal defect as compared to a defect involving full segments and affecting different levels of the spines. The perinatal outcome is obscured when it is associated with other syndromes or cytogenetic abnormality. It is imperative to do serial thorough anatomical ultrasound scanning and to screen for chromosomal abnormality when hemivertebra is detected during pregnancy.

## Full-text entities

- **Diseases:** congenital abnormality of the spinal column (MESH:C536342), chromosomal abnormality (MESH:D002869), spinal defect (MESH:D013122), Hemivertebra (MESH:C535881)

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10999555/full.md

## References

15 references — full list in the complete paper: https://tomesphere.com/paper/PMC10999555/full.md

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Source: https://tomesphere.com/paper/PMC10999555