Asphyxiating Thoracic Dystrophy (Jeune syndrome)
نویسندگان
چکیده
منابع مشابه
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the obs...
متن کاملOne-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome).
OBJECTIVES Jeune syndrome (asphyxiating thoracic dystrophy) is a rare disorder characterized by skeletal dysplasia, reduced diameter of the thoracic cage and extrathoracic organ involvement. Fatal, early respiratory insufficiency may occur. Two-stage lateral thoracic expansion has been reported, addressing each side sequentially over 3-12 months. While staged repair theoretically provides less ...
متن کاملCase report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome.
BACKGROUND AND OBJECTIVES Jeune Syndrome or Asphyxiating Thoracic Dystrophy is a recessive autosomal disease. This syndrome is characterized by a bone dysplasia with varied abnormalities: thoracic, pancreatic, cardiac, hepatic, renal and retinal. Patients' age when the clinical condition is experienced correlates with the disease severity. These patients experience polychondrodystrophy with lar...
متن کاملAsphyxiating thoracic dystrophy.
On examination, the baby was full term AFD. The baby's weight at birth was 2670 g, length 46 cm, head circumference 32 cm, arm span of 44 cm, with US:LS ratio of 1.9:1. The cry and activity of the baby was fair. He had signs of severe respiratory distress with bilateral crepitations. The cardiovascular system was normal. The liver was palpable three cm below the right costal margin. There was n...
متن کاملAsphyxiating Thoracic Dystrophy.
Introduction Jeune et al first described asphyxiating thoracic dystrophy in 2 siblings in 1954 [1]. The incidence of this rare condition has been reported to be 1 in 1,00,000 live births [2]. Scanty reports are available in Indian literature [2-5]. This condition is characterized by small constricted chest causing repeated respiratory tract infections and typical radiological appearance of thor...
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ژورنال
عنوان ژورنال: Journal of Case Reports
سال: 2012
ISSN: 2231-6809
DOI: 10.17659/01.2012.0006