Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

Abstract

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years. Most patients experienced respiratory problems in the first years of their life, three died, one experienced renal complications, and one had hepatic problems. With age, the thoracic malformation tends to become less pronounced and the respiratory problems decrease. The prognosis of ATD seems better than described in literature and in our opinion this justifies long term intensive treatment in the first years. We also propose a follow-up protocol for patients with ATD.

An early breathing disorder in a newborn: Jeune syndrome

“…Transaminase levels were normal. The most common histopathological anomaly seen with liver involvement is portal fibrosis and bile canaliculus proliferation (2). Sonography didn't detect any abnormality of portal structures.…”

Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery “On Demand”

“…11,12 Discussion Primary JS is a rare, specific multisystem genetic disorder with clinical manifestations in renal, digestive, respiratory, and skeletal systems, which lead to the death of half to threefourths of patients, with incidence of 1 case per approximately 120,000 live births. [1][2][3]6 One of the most serious complications is the growth arrest of the chest at width and depth. It results to TIS, which is hardly diagnosed by pulmonary function tests in small age patients.…”

“…It results to TIS, which is hardly diagnosed by pulmonary function tests in small age patients. 6 Diagnosis is based at clinical signs, clinical examination, loss of the chest wall mobility, chest asymmetry, and indices measured at radiographs and CT scans.…”

“…It was impossible to measure the respiratory capacity of the lungs (pulmonary function tests) because of the small age of the patient. 6 Loss of the chest wall mobility and chest asymmetry were main indications for second correction. We used two mandible locking plates to correct the deformity.…”

“…5 The manifestations in skeletal system are dwarfism, hypoplastic chest ("bell" shape at anterior look) with short ribs, short limbs, polydactyly, and specific radiographic changes in the ribs and pelvis. 6,7 Some patients develop late ocular complications such as "retinitis pigmentosa." 8 Keywords ► Jeune's syndrome ► asphyxiating thoracic dystrophy ► mandible locking plate ► thoracic insufficiency syndrome…”