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Biomedical subjects

D M Danks

Publications and source records attributed to D M Danks.

At least 217 records · Page 12Linked to original sources
PubMed1976

Chondrodysplasia punctata-23 cases of a mild and relatively common variety.

A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual appearance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients.

Adult↗
PubMed1976

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.

Agranulocytosis↗
PubMed1975

The Opitz trigonocephaly syndrome. A case report.

This is the third report, to our knowledge, of a baby with Opitz trigonocephaly syndrome of multiple congenital abnormalities. The unusual facial and palatal abnormalities are diagnostic.

Abnormalities, Multiple↗
PubMed1975

Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.

Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.

Acidosis↗
PubMed1975

A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis.

Yet another form of tyrosinemia is described, in a young baby who developed metabolic acidosis and ceased to grow when weaned from breast milk onto a higher protein formula. Severe tyrosyluria and mild tyrosinemia cleared on a low-protein diet which also corrected the acidosis. However, restoration of growth required a normal protein intake with very greatly reduced amounts of phenylalanine and tyrosine. The metabolic fault later resolved spontaneously at about 12 months of age. Mental development appears normal and liver disease was never apparent. The patient and her mother both excrete quite large quantities of an unidentified peptide.

Acidosis↗