📄 SCRS

Jarcho–Levin spectrum
Spondylocostal dysostosis

Jarcho–Levin spectrum / Spondylocostal dysostosis ultrasound case study

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Jarcho–Levin spectrum / Spondylocostal dysostosis ultrasound case study

CASE–1

Clinical History

A fetus was referred for detailed anomaly scan due to suspected skeletal abnormality and abnormal fetal spine/thoracic configuration on routine antenatal ultrasound. The examination was performed to evaluate the fetal spine, thoracic cage, ribs, brain ventricles, neural tube, and associated limb anomalies.

Ultrasound Findings

Ultrasound examination demonstrates a thoracic myelomeningocele with posterior spinal defect involving the thoracic vertebrae. Multiple thoracic vertebral segmentation anomalies are noted. The thoracic cage appears markedly shortened and small, with absent/fused ribs causing severe thoracic hypoplasia. Severe communicating hydrocephalus is present with marked dilatation of the lateral ventricles. Unilateral talipes equinovarus (clubfoot) is also demonstrated. The overall findings suggest a complex fetal anomaly involving the spine, thoracic cage, ribs, central nervous system, and lower limb.

Fetal Jarcho-Levin spectrum with thoracic myelomeningocele

Fetal ultrasound. Severe communicating hydrocephalus is demonstrated with marked dilatation of the fetal ventricular system. Associated thoracic spinal defect with myelomeningocele, thoracic vertebral anomalies, short hypoplastic thorax with absent/fused ribs, and unilateral talipes equinovarus are also noted. Findings are suggestive of Jarcho–Levin spectrum / Spondylocostal Dysostosis with associated neural tube defect.

Fetal ultrasound cross-section. A posterior spinal defect is seen with a cystic sac protruding from the fetal back, consistent with myelomeningocele. The lesion contains neural elements and is associated with abnormal posterior vertebral arch formation.

Fetal ultrasound. Abnormal thoracic spine curvature with irregular thoracic vertebral alignment is demonstrated, consistent with thoracic scoliosis. Associated vertebral segmentation defects and abnormal rib morphology may be seen in Jarcho–Levin spectrum / Spondylocostal Dysostosis.

Fetal ultrasound. The thoracic cage appears markedly shortened and narrowed with absent and fused ribs, resulting in a severely hypoplastic thorax. These findings are characteristic of Jarcho–Levin spectrum / Spondylocostal Dysostosis and are associated with an increased risk of thoracic insufficiency and pulmonary hypoplasia.

Fetal ultrasound. The fetal foot demonstrates persistent medial deviation and plantar flexion, consistent with unilateral talipes equinovarus (clubfoot). The affected foot is maintained in an abnormal inwardly rotated position relative to the lower leg, a characteristic sonographic appearance of congenital clubfoot.

Report Line

A thoracic myelomeningocele is identified in association with multiple thoracic vertebral segmentation anomalies. The thoracic cage is markedly shortened with absent/fused ribs, resulting in severe thoracic hypoplasia. Severe communicating hydrocephalus is present. Unilateral talipes equinovarus (clubfoot) is also demonstrated. The constellation of findings is consistent with Jarcho–Levin spectrum / Spondylocostal Dysostosis associated with complex neural tube defect and severe thoracic insufficiency.

Impression

Features are consistent with Jarcho–Levin spectrum / Spondylocostal Dysostosis with thoracic vertebral segmentation anomalies, short hypoplastic thorax, absent/fused ribs, thoracic myelomeningocele, severe communicating hydrocephalus, and unilateral talipes equinovarus.

Recommendation

Detailed fetal anomaly survey and fetal neurosonography are recommended. Fetal MRI may be considered for better assessment of the neural tube defect, spinal involvement, and associated intracranial abnormalities. Fetal echocardiography and genetic counseling are advised. Correlation with aneuploidy screening and consideration of molecular genetic testing are recommended. Prognosis should be discussed with the parents due to severe thoracic hypoplasia and associated central nervous system anomaly.

Key Learning Points

Jarcho–Levin spectrum / Spondylocostal Dysostosis is characterized by vertebral segmentation defects and rib anomalies.
A short, hypoplastic thorax with absent or fused ribs may result in severe thoracic insufficiency.
Thoracic myelomeningocele represents an associated neural tube defect.
Severe communicating hydrocephalus may occur with complex spinal and neural tube abnormalities.
Talipes equinovarus may be seen as an associated limb deformity.
Assessment should include the spine, ribs, thoracic circumference, brain ventricles, kidneys, heart, and limbs.
Fetal MRI and genetic counseling may help in further evaluation and parental counseling.