Asphyxiating Thoracic Dystrophy.
نویسندگان
چکیده
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 thoracic cage, (long narrow bell shaped chest, short transverse ribs with bulbous ends) pelvis and long bones. It is inherited as an autosomal recessive disorder.
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...
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...
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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...
متن کاملCorrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
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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عنوان ژورنال:
- Medical journal, Armed Forces India
دوره 54 2 شماره
صفحات -
تاریخ انتشار 1986