Two Brothers with Escobar Syndrome Associated with Thoracic Kyphoscoliosis

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Two Brothers with Escobar Syndrome Associated
with Thoracic Kyphoscoliosis
M. Bulent Balioglu, Aysegul Bursali, M.Akif
Kaygusuz, Ali Oner, Alper Koksal Ministry of
Health Metin SabancI Baltalimani Bone Disease
Hospital, Istanbul, TURKEY
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Summary

• Escobar syndrome (ES) is associated with thoracic
  kyphoscoliosis, lordoscoliosis and severe
  restrictive lung disease.
• Two brothers were diagnosed with Multiple
  Pterygium Syndrome type Escobar.
• The younger brother was treated surgically.
• Scoliosis may progress considerably in ES,
  requiring early surgical treatment.

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Introduction

• ES is characterized by a web across every flexion
  crease in the extremities, most notably the
  popliteal space.
• The syndrome is associated with two other
  structural anomalies a vertical talus and
  congenital lordoscoliosis.
• In addition to ES both brothers were diagnosed
  with scoliosis and kyhposis.

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Methods

• One patient (age 11) received surgical treatment,
  and the other (age 14) was only examined.
• The patient received one-stage posterior spinal
  fusion with instrumentation.

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BT, 14 years
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AT, 11 years
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AT, 11 years
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(No Transcript)
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Results

• Simple posterior stabilization of the deformity
  was achieved after surgery.
• The patient's postoperative course was normal.
• However, junctional kyphosis developed in the
  proximal area of the instrumentation.
• The patient had a 1 year follow-up with
  radiographically confirmed maintenance
  correction.
• Clinically, the patient was able to stand
  upright, and could participate in functional
  activities.

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Conclusion

• Patients with severe spinal deformity secondary
  to ES can be successfully treated surgically.
• We propose early surgical intervention in this
  group to prevent curve progression, restrictive
  lung disease, and the need for complex salvage
  procedures.
• In addition to the clinical characteristics of
  ES, including an anomalous facial expression,
  multiple joint contractures, multiple pterygia
  and a short stature, two male siblings developed
  proximal dominant muscle weakness from birth and
  slowly progressive scoliosis and khyposis .

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Conclusion

• Our study consisted of two brothers with
  scoliosis and kyhposis with ES.
• One of the patients received surgical treatment
  and the other was examined.
• Posterior correction and simple posterior
  stabilization of the deformity was realized
  postoperatively.

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Conclusion

• Scoliosis may progress considerably in ES,
  requiring early surgical treatment.
• We propose early surgical intervention to prevent
  curve progression and restrictive lung disease.