A CASE REPORT OF ASPHYXIATING THORACIC DYSPLASIA

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MIABI Z.; ALAEI A.A.R.

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Paper Information

Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2005 | Volume:27 | Issue:2 Page(s): 93-98

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Title

A CASE REPORT OF ASPHYXIATING THORACIC DYSPLASIA

Author(s)

MIABI Z. | ALAEI A.A.R. | Issue Writer Certificate

Keywords

OSTECHONDRODYSPLASIAQ4

ACRORHISOMELIC DWARFISMQ4

THORACIC DYSPLASIAQ4

Abstract

Asphyxiating THORACIC DYSPLASIA or Jeune's syndrome is a very rare osteo-chondrodysplasia that demonstrates with failure of membranous and enchondral ossification. Jeune's syndrome associated with thorax, limbs, kidney, liver, pancreas, heart, retina and brain abnormalities. The disease presentation is variable and has two forms. Major form usually leads to severe respiratory failure and multiorgan involvement resulting in early neonatal death. In minor form there are minimal respiratory manifestations, and patient may die from complication of nephritis, hepatic and pancreatic fibrosis in childhood and adolescence. The disease has autosomal recessive inheritance that maps to chromosome 15 q 13. Recent medical and surgical advances have centered to mechanical ventilation, rib expansion techniques and renal/hepatic / pancreas transplantation resulting in good survival. In this study, we report a case of 43 day- old neonate with Jeune's syndrome.

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APA: Copy

MIABI, Z., & ALAEI, A.A.R.. (2005). A CASE REPORT OF ASPHYXIATING THORACIC DYSPLASIA. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 27(2), 93-98. SID. https://sid.ir/paper/47137/en

Vancouver: Copy

MIABI Z., ALAEI A.A.R.. A CASE REPORT OF ASPHYXIATING THORACIC DYSPLASIA. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2005;27(2):93-98. Available from: https://sid.ir/paper/47137/en

IEEE: Copy

Z. MIABI, and A.A.R. ALAEI, “A CASE REPORT OF ASPHYXIATING THORACIC DYSPLASIA,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 27, no. 2, pp. 93–98, 2005, [Online]. Available: https://sid.ir/paper/47137/en

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