A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.

To determine how frequently and under what circumstances the chest radiograph changes pre-x-ray diagnoses and plans for management of suspected acute lower respiratory tract disease, experienced pediatricians performed a three-phased sequential evaluation (observation, history, physical examination), determined an initial diagnosis and the need for a chest radiograph after each phase, and recorded pre- and post-x-ray diagnoses and plans of management. Of the 102 children evaluated, the chest radiograph resulted in a change of the pre-x-ray diagnosis in 21% and pre-x-ray management plans in 16%. In the majority of these cases, a diagnosis previously considered less likely was "ruled in" or therapy was instituted rather than withheld. More important, when the pattern of decision making was consistent, with the initial diagnosis and the need for a chest radiograph remaining the same throughout all phases, the chest radiograph resulted in a change of pre-x-ray diagnosis in five (10%) of 48 patients, compared with a change in 16 (30%) of 54 when the pattern was inconsistent (P less than 0.02). Similarly, when the pattern was consistent, the pre-x-ray management was modified in only three (6%) of 48 patients versus 13 (24%) of 54 inconsistent cases (P less than 0.015). Chest radiographs are least useful when information from sequential observation, history, and physical examination is consistent in suggesting the same diagnosis and need for a chest radiograph. Radiographs appear to have greater impact on diagnosis and management when any inconsistencies arise.

Ten cases of large pleural collections, all of which were iatrogenically induced in premature infants, are presented. There were five instances of hypopharyngeal tears communicating with the right pleural space, three of chylothorax secondary to superior vena caval obstruction in patients undergoing total parenteral nutrition catheterization (TPN), and two of direct erosion by the inferior vena caval TPN catheter into the pleural space. Ultrasonography was most helpful in detecting these pleural collections. It is important to recognize the presence of pleural fluid in these infants as a marker of iatrogenic injury.

To evaluate the role of delayed gastric emptying in the decreased nutritional intake and growth retardation of some patients with Crohn's disease, we looked at four groups: 1) Crohn's disease with growth retardation; 2) Crohn's disease with malnutrition or acute weight loss; 3) Crohn's disease without growth retardation or malnutrition; and 4) normal controls. Gastric emptying was measured by a test meal incorporating 99mTc sulfur colloid-labeled chicken liver as the solid phase marker and 111In-labeled water as the liquid phase marker. The percent of each isotope retained in the stomach over 120 minutes was compared among the groups and correlated with established nutritional parameters, caloric intake, and disease activity. Gastric emptying of the liquid component was the same in all groups, and emptying of solids in patients with Crohn's disease and growth retardation was not significantly different from controls. However, gastric emptying of solids was delayed in five of seven patients in the malnourished group; the mean emptying rate of all seven patients was significantly slower compared both to the normals (p less than 0.01) and the Crohn's patients without growth disturbances (p less than 0.05). This delay was correlated with caloric intake, but not with disease activity or any individual nutritional parameter except arm muscle area (p less than 0.01). Multiple regression analysis revealed that 54% of the variation in the emptying of solids could be accounted for by nutritional factors. Fifty-seven percent of patients with delayed gastric emptying had radiologic and/or endoscopic evidence of nonconstrictive involvement of the duodenum with Crohn's disease, while 80% of patients with such involvement had delayed gastric emptying. These results help explain the decreased caloric intake observed in Crohn's disease patients and support the role of liquid caloric supplements.

Although impaired growth is a well-recognized complication of uncontrolled diabetes, it has not been established whether less severe metabolic derangements commonly seen with conventional treatment adversely affected growth potential. To examine this question, growth velocity was measured in nine type 1 diabetic patients (age 14 +/- 3 years) before and after six months of intensive insulin treatment either with the insulin pump or with multiple injections, which lowered mean plasma glucose concentration from 270 +/- 96 to 105 +/- 55 mg/dl and total glycosylated hemoglobin from 12.4 +/- 3.0 to 8.4 +/- 1.5% (mean +/- SD). During conventional treatment, growth velocity (5.3 +/- 2.2 cm/year) was within the range of normal despite elevations in plasma glucose concentrations. However, growth velocity increased sharply during intensive treatment (to 9.4 +/- 3.9 cm/year, P less than 0.005), reaching values in excess of normal in seven patients. The increase in growth velocity observed during intensive treatment was associated with a twofold rise in plasma somatomedin-C values. Skeletal maturation, previously normal or slightly delayed, did not advance excessively. These data indicate that the metabolic changes accompanying intensive treatment may enhance growth in diabetic children, even in those with apparently normal growth velocity during conventional therapy.

A unique occurrence of antenatal thrombosis of the left main coronary artery in a term infant is presented. The clinical features are indistinguishable from those of several other forms of congenital heart disease. The etiology of the thrombosis is unknown.