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At a glance

A very rare form of thoracic chondrodysplasia that affects the fetus and usually leads to death in 70% of infants as a consequence of respiratory insufficiency caused by severe thoracic restrictive deformation. Other features include multiple skeletal malformations (especially the rib cage, pelvis, arms and legs), liver, renal, and retinal dysfunctions. The severity of respiratory problems is thought to decrease with age. However, the presence of severe kidney failure and heart problems is known to increase as the child ages, usually by the age of 2 years. Also, with aging, complications associated to an increase in transaminase levels, leads to hepatomegaly, and pancreatic insufficiency, sometimes resulting in portal hypertension.

Synonyms

Asphyxiating Thoracic Dystrophy of the Newborn; Thoracic Pelvic Phalangeal Dystrophy Syndrome; Infantile Thoracic Dystrophy Syndrome.

History

Congenital genetic disorder first described by M. Jeune et al in 1955.

Incidence

The incidence in the United States is estimated at 1:100,000 to 130,000 live births.

Genetic inheritance

Autosomal recessive, clinical variability. The Jeune Syndrome is a ciliopathy.

Pathophysiology

Unknown.

Diagnosis

Clinically evocated at birth in a child with narrow thorax and pelvic anomalies confirmed by radiologic findings: short ribs and particular morphology of the pelvis (horizontal roof of the acetabulum and a trident aspect formed by a median protrusion and two lateral spurs). The term asphyxiating thoracic dysplasia refers to the hypoplastic thoracic cage and lungs, often resulting in respiratory distress, asphyxia, and early death in infancy.

Clinical aspects

Living patients present with short stature; disease involves chest (narrow thorax, short, horizontal ribs with bulbous and irregular ends) with pulmonary insufficiency (lung hypoplasia, restrictive syndrome, recurrent respiratory infections). Approximately 70% die from respiratory failure in infancy or early childhood; skeletal (lacunar skull, small pelvis with trident acetabular roofs, sciatic notch spur, irregular metaphyses and epiphyses, short long bones, cone-shaped epiphyses, and polydactyly), gastrointestinal (hepatic and pancreatic fibrosis, polycystic liver and pancreas disease, bile duct proliferation), and genitourinary (Potter Type IV polycystic kidneys, chronic nephritis, and renal failure). Retinal degeneration is frequent. Hydrocephalus, cleft lip/palate, and scalp defect can be observed.

Precautions before anesthesia

Respiratory evaluation is of utmost importance for these patients, as it can have fatal consequences, especially in younger patients. Evaluate pulmonary function (clinical, chest radiographs, CT, pulmonary function test, arterial blood gases analysis) and renal, hepatic, and pancreatic function (clinical, echography, CT, and laboratory). Request complete blood count, electrolytes, creatinine, blood urea nitrogen, liver transaminases, bilirubin, and coagulation tests.

Anesthetic considerations

Careful intraoperative positioning is needed because of skeletal malformations. As a result of hypoplastic chest and lungs, high airway pressures may be required to maintain ...

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