Presentation
Birth asphyxia.
Patient Data
Thorax is narrow and elongated. Ribs are short and horizontally oriented with cup and bulbous ends. Both clavicle show a handle bar configuration.
Bilateral short and flared ilia, acetabula show trident like appearance with bony spur arising at medial and lateral margins.
Shortening of middle and distal phalanges of both hands particularly meso-phalanx and distal phalanx of 2nd and 5th digit on either side.
Case Discussion
Jeune syndrome is a rare skeletal dysplasia that primarily affects the bone of chest resulting in narrow bell shape thorax. It is inherited as autosomal recessive genetic condition.
Diagnosis is usually based on clinical and radiographic appearance. A combination of respiratory difficulty with narrow thorax with obvious shortened limbs are sufficient to diagnose the case.
As the child gets older, other complication such as high blood pressure, renal cysts, pancreatic cysts, and, less frequently, liver illnesses can occur.
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