Jeune syndrome
Overview
A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
Symptoms
* Short stature * Short ribs * Horizontal ribs * Irregular costochondral junction * Small ribcage * Flat pelvis * Horizontal acetabular roof * Spurs on lower edge of sciatic notches * Early ossification of capital femoral epiphysis * Irregular epiphyses * Irregular metaphyses * Short limbs * Short hands * Short ulna * Short fibula * Cone-shaped epiphyses of fingers * Cone-shaped epiphyses of toes * Lung hypoplasia * Cystic tubular dysplasia * Glomerular sclerosis * Biliary dysgenesis * Portal fibrosis * Bile duct proliferation * Retinal degeneration * Faulty dentition * Early fusion between epiphyses of middle and distal phalanges * Early fusion between metaphyses of middle and distal phalanges * Nail dysplasia * Hypotrichosis * Hydrocephalus * Asplenia * Cystinuria * Mental retardation
Causes
Asphyxia results from any condition or substance that inhibits respiration: * hypoventilation as a result of narcotic abuse, medullary disease or hemorrhage, pneumothorax, respiratory muscle paralysis, or cardiopulmonary arrest * intrapulmonary obstruction, as in airway obstruction, severe asthma, foreign-body aspiration, pulmonary edema, pneumonia, and near drowning * extrapulmonary obstruction, as in tracheal compression from a tumor, strangulation, trauma, or suffocation * inhalation of toxic agents, as in carbon monoxide poisoning, smoke inhalation, and excessive oxygen inhalation.
Treatment
Asphyxia requires immediate respiratory support — with cardiopulmonary resuscitation, endotracheal intubation, and supplemental oxygen as needed. The underlying cause must be remedied: bronchoscopy for extraction of a foreign body; a narcotic antagonist, such as naloxone, for narcotic overdose; gastric lavage for poisoning; and limited, graded use of supplemental oxygen for carbon dioxide narcosis caused by excessive oxygen therapy.