Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.

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Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.

Two pairs of brothers suffered respiratory distress in the newborn period because their ribs were abnormally short. The diagnostic radiological features of metaphyseal chondrodysplasia appeared only in the second year. Pancreatic insufficiency and neutropenia were present. One died of overwhelming infection and his brother survived a life-threatening episode of gangrenous proctitis.

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Neonatal Respiratory Distress in Misan: Causes, Risk Factors, and Outcomes

Background: Respiratory distress is considered one of the most frequent causes of admission in the neonatal unit. Additionally, it is the leading cause of neonatal morbidity and mortality. This study aimed to determine the incidence of neonatal respiratory distress and its causes, risk factors, and outcomes to have a baseline data about the magnitude of respiratory distress with a further step ...

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Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

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Diagnostic Utility of Chest X-rays in Neonatal Respiratory Distress: Determining the Sensitivity and Specificity

Background: Chest radiography is one of the most usual diagnostic tools for respiratory distress. Objective: The purpose of this study is to assess the specificity, sensitivity and clinical value of chest radiography of neonates with respiratory distress.Patients and Methods: A descriptive- analytical study was conducted on 102 neonates that were in neonatal intensive care unit of Imam Reza and...

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Association of pancreatic insufficiency and chronic neutropenia in childhood.

In childhood, pancreatic exocrine insufficiency is rarely encountered except as one of the features of cystic fibrosis, which is in contrast to the pattern of pancreatic disease in adults, where pancreatitis is common. However, paediatricians recognize that some children with symptoms of pancreatic insufficiency do not have the chronic chest infection and raised levels of electrolytes in the sw...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1976

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.51.9.697