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Very rare form of chondrodysplasia often leading to death in infancy as a consequence of respiratory insufficiency caused by severe thoracic restrictive deformation. Common association with multiple skeletal malformations, liver, renal, and retinal dysfunction.

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

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

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

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Autosomal recessive, clinical variability.

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Unknown.

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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.

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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), GI (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.

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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.

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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 normocapnia with normal respiratory rates and tidal volumes. Hence, small tidal volumes and a higher respiratory rate are preferred to prevent pulmonary barotrauma and/or pneumothorax. Cor pulmonale and pulmonary artery hypertension must be expected, so acidosis and hypercapnia must be prevented. Both arterial and venous access can be difficult because of limb anomalies. Regional anesthesia is not contraindicated but can be difficult to realize because of skeletal deformities. Postoperative mechanical ventilation must be anticipated. If a nasogastric tube is required for surgery, be aware of the possibility of esophageal varices caused by liver cirrhosis and portal hypertension, which may render abdominal procedures prone to major blood loss [secondary to coagulopathy, thrombocytopenia (hypersplenism), venous congestion].

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Perioperative fluid regimen and the choice of anesthetic drugs should be adapted to renal and hepatic function. In case of failure of both systems, it is probably best to administer low doses of anesthetic drugs and titrate to effect.

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