Horizontal gaze palsy with progressive scoliosis

HGPPS is a rare autosomal recessive AR congenital anomaly caused by mutation of ROBO3 gene on chromosome 11.

Clinical presentation

Abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomotor nerve and mediated by the abducens nucleus. In this condition, there is congenital absence of the abducens nucleus results in abnormal horizontal gaze.

Radiographic features

MRI
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Article information

rID: 29339
Section: Syndromes
Tag: cases, refs
Synonyms or Alternate Spellings:
  • HGPPS

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Cases and figures

  • Case 1: scoliosis
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  • Case 1: tenting of 4th ventricle
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  • Case 1: reduced pons/medulla volume
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  • Case 1: butterfly medulla oblongata
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