Asphyxiating thoracic dysplasia.
نویسندگان
چکیده
Review of 10 cases of asphyxiating thoracic dysplasia has shown a wide range of clinical effects and some variability in the radiographic features. Respiratory difficulty was severe in 7 babies and lethal in 6 of these. The seventh child is remarkable for his normal stature and excellent health at 15 years of age. 3 babies had no respiratory difficulty but 2 of them subsequently died of renal failure; one remains alive at 3 years. Microscopical abnormalities in the liver and kidneys were very frequent and appeared to increase progressively with age.
منابع مشابه
Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound
BACKGROUND Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000-130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. C...
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Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The c...
متن کاملShwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)
BACKGROUND The differential diagnosis of a neonate or fetus presenting with a bell-shaped or long narrow thorax includes a wide range of bony dysplasia syndromes. Where this is accompanied by respiratory distress, asphyxiating thoracic dystrophy (ATD, Jeune syndrome) is an important potential diagnosis. Shwachman-Diamond syndrome (SDS) is widely recognised as a cause of exocrine pancreatic dysf...
متن کاملA locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and o...
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...
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ورودعنوان ژورنال:
- JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie
دوره 87 1 شماره
صفحات -
تاریخ انتشار 2004