Asphyxiating thoracic dystrophy.
نویسندگان
چکیده
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 no facial dysmorphic features. The chest cage was long and narrow and the limbs appeared short.
منابع مشابه
Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.
Karjoo, M., Koop, C. E., Cornfeld, D., and Holtzapple, P. G. (1973). Archives ofDisease in Childhood, 48, 143. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Asphyxiating thoracic dystrophy, a constrictive thoracic chondrodystrophy present at birth, is associated with tachypnoea, recurrent pulmonary infections, and failure to thrive. In our patient, a suc...
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A form of thoracic and pelvic dysostosis is reported in a mother and her son. The short ribs caused respiratory distress in the baby and raised the possibility of asphyxiating thoracic dystrophy (ATD). The radiological features, however, distinguish this benign condition from ATD and other described skeletal dysplasias.
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Asphyxiating thoracic dystrophy of the newborn is a rare skeletal abnormality. Though the disease is generalized in distribution, the cartilaginous thoracic cage bears the brunt, with the results that the chest is narrow and immobile. The outcome is usually fatal early in the neonatal period. Less frequently the patients survive with severely impaired respiratory function only to succumb to rep...
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The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans...
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ورودعنوان ژورنال:
- Ceskoslovenska pediatrie
دوره 34 2 شماره
صفحات -
تاریخ انتشار 1979