Jeune syndrome pdfプリンター
Jeune syndrome (JS) is a rare autosomal recessive dysplasia which may present with asphyxiating thoracic dystrophy in the neonatal period or progressive renal or visual impairment in childhood and
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra
What is Jeune syndrome? Jeune syndrome is a rare inherited disorder that primarily affects the bones. Also called asphyxiating thoracic dystrophy. Children born with Jeune syndrome have a small chest and ribcage. The child may have life-threatening breathing problems because there isn't enough room in the chest for the lungs to develop
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