Necropsy findings in neonatal asphyxiating thoracic dystrophy.
نویسندگان
چکیده
منابع مشابه
Necropsy findings in neonatal asphyxiating thoracic dystrophy.
Asphyxiating thoracic dystrophy is an autosomal recessive disorder characterised by an abnormally small thorax, variable shortening of the extremities, and pelvic anomalies. Renal and pancreatic symptoms are found in longer survivors, although most cases die in infancy of respiratory failure. Seven neonatal cases were studied at necropsy. These cases ranged in gestational age from 32 to 40 week...
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...
متن کاملPancreatic 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 کاملCo-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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1985
ISSN: 1468-6244
DOI: 10.1136/jmg.22.2.112