Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have shown characteristic features of both conditions and have grown less well than expected for achondroplasia. Radiographs show the striking synergistic effects of the two conditions. MRI in both sibs confirmed brain stem compression at the foramen magnum. This may be an important complication and should be actively sought in any double heterozygote.

Obstruction in the refluxing urinary tract--a common phenomenon.

Dilatation of the urinary tract may be due to vesicoureteric reflux, urinary tract obstruction, or to primary dilatation. In a proportion of patients these factors may coexist. A retrospective review was carried out to estimate the incidence and features of coexisting reflux and obstruction. Our review indicates that the coexistence of urinary tract obstruction and primary reflux is more common than previously reported, occurring in approximately 1 in 20 patients with reflux. Any patients with reflux who has a dilated and/or tortuous ureter must be suspected of having obstruction. This may be ruled out in the majority of cases by a drainage film after a micturating cystourethrogram and the importance of this simple procedure is emphasised.

Pulmonary sequestration and related congenital disorders. A clinico-radiological review of 41 cases.

Forty-one children with pulmonary sequestration complex were reviewed. This disease is a spectrum of disorders involving the bronchopulmonary airway, the arterial supply to the lungs, the lung parenchyma and its venous drainage. The review showed pulmonary sequestration to be ubiquitous in its presentation: "classical" features of sequestration occurred in 20 (49%) children studied. The early diagnosis of children with sequestration outside infancy demands a high index of suspicion by the radiologist. The role of angiography in demonstrating an anomalous systemic arterial supply to the lung in suspected bronchial and pulmonary arterial sequestration is described in relation to alternative imaging techniques available.

Radiological findings in total aganglionosis coli.

The radiological findings in 13 patients with total aganglionosis coli were reviewed. There was a male to female ratio of 7:6. Fifty-four percent of patients presented in the first week of life, but a significant number (31%) did not present until after 1 month of age. All patients had plain film evidence of bowel obstruction when referred for a barium enema. There were no pathognomonic barium enema findings, and barium enema results covered the entire spectrum of findings which can be encountered in the neonate and young infant with bowel obstruction. Seventy-seven percent had normal calibre colon, 23% had micro colon, 23% had a shortened colon, 46% had colonic wall irregularity, 33% had significant ileal reflux. Delayed evacuation of barium from colon occurred in the two patients who had delayed films. Total colonic aganglionosis should be considered in any infant or young child with plain film evidence of bowel obstruction, whatever the barium enema findings. Hirschsprung's disease and the level of transition can only be definitively diagnosed by biopsy.

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

Review of 10 cases of asphyxiating thoracic dysplasia has shown a wide range of clinical effects and some variability in the radiographic features. Respiratory difficulty was severe in 7 babies and lethal in 6 of these. The seventh child is remarkable for his normal stature and excellent health at 15 years of age. 3 babies had no respiratory difficulty but 2 of them subsequently died of renal failure; one remains alive at 3 years. Microscopical abnormalities in the liver and kidneys were very frequent and appeared to increase progressively with age.

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.

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.