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We report on two unrelated patients with an apparently new syndrome. In each family they are the only affected members, their parents are not consanguineous, and paternal and maternal ages are not advanced. At birth each patient was noted to have a marked Robin phenotype (cleft of the secondary palate and micrognathia) plus rhizomelic shortness. Delay in the appearance of long bone epiphyses was noted and followed by small fragmented and later very flat epiphyses of all long bones. The fibulae are short and radial heads dislocated. Scoliosis and marked genu valgum developed in both. Both patients have normal intelligence, vision, and hearing. Both have mildly upward slanting palpebral fissures, broad nasal tip, and apparent hypertelorism.

The accuracy of inguinal ultrasonography in the pre-operative localization of the maldescended testis was assessed in 51 patients with 57 maldescended testes. Pre-operative sonographic results were compared with the clinical assessment and the operative findings. Testes located in the inguinal canal or at the internal ring, which were occasionally impalpable, were readily demonstrated by sonography. The management of children with an impalpable maldescended testis should include a sonographic examination as the investigative procedure of choice.

During the past five years, over 50,000 routine examinations in pediatric radiology have been performed utilizing a high-speed, rare-earth system. A detailed study of the physical characteristics as well as subjective qualities of all of the commercially available rare-earth systems was performed. Our extensive clinical experience with a gadolinium oxysulfide system is described in detail. Practical points on how to avoid certain pitfalls when instituting a system of low-dose radiography are discussed. The present system allows a significant reduction in radiation dosage with maintenance of fine to excellent radiographic resolution.

The metacarpophalangeal profile (MCP) pattern has been proven useful in describing individuals with genetic and nongenetic syndromes. However, the measurement of the 19 bone lengths is a tedious procedure requiring use of hand vernier calipers, detailed normative data to be looked up in extensive tables, hand calculator, and manual graphing techniques. Presently there are no reports of microcomputer-automated systems for the accurate measurement, recording, analysis, and graphing of MCP profiles. We describe a computer-automated metacarpophalangeal profile system (CAMPS) that will assist in the derivation of the MCP profile. This program allows the user to select different program routines that perform the functions necessary for MCP profile construction. The "data acquisition module" (DAM) assists in bone length measurement from contact prints of hand radiographs and stores the 19 measurements on a floppy disk. The "standardization analysis module" (SAM) then compares the 19 measurements to age- and sex-matched normal data and converts the raw data to z-score values. The "Pearson product-moment correlation module" (PPM) generates a correlation coefficient describing the degree of similarity between the two hands measured and graphically illustrates the resulting scatterplot. The "MCP plotting module" (MCPM) provides a graphic plot of the 19 bones in either transverse rows or phalangeal rays on a dot-matrix printer or X-Y plotter.

An x-ray dose-monitoring system using a small digital computer is described. Initially, and for every 6 months afterward, the system is calibrated using an exposure meter. For each exposure, the computer receives values of x-ray technique and beam geometry from the x-ray generator through a specially designed electronic interface. Then, by means of calibration data, entrance exposure, area exposure product, and integral dose are obtained and printed for each patient examined. The overall accuracy of the system is better than +/- 20%. Operation is semiautomatic, requiring minimum operator intervention. Over 2,000 patients have been monitored with the device. Because the system is computer-based, it offers the opportunity for statistical analysis of the data base created, as the results for each patient are stored on computer disk.

Twenty cases of hyperviscosity were studied prospectively to determine the presence and incidence of radiological findings and whether or not exchange transfusion had an appreciable effect on these findings. Serial chest radiographs revealed increased pulmonary vascularity, hyperaeration, and mild, bilateral alveolar infiltrates (perihilar and/or lower lobe). Ten patients were treated with partial plasma exchange transfusions which resulted in improvement of radiological findings. Hyperviscosity is more common than previously recognized. This entity may have profound significance as a potentially treatable cause of central nervous system damage in the neonate.

It has long been known that neonatal hyperviscosity can produce serious central nervous system consequences, including paresis. In recent years, it has been shown that his condition occurs in approximately 5% of newborns and that partial plasma exchange transfusion can lower the hematocrit and may help prevent sequelae. Simple screening of all neonates four hours after birth is recommended so that treatment can be given early.

Both scintigraphy and real-time sonography have been used to assess acute symptoms involving the scrotum. However, because of its high sensitivity and ability to document physiologic abnormalities, scintigraphy has been the procedure of choice. Scintigraphy, however, lacks specificity; its value lies mainly in serving to distinguish torsion from nontorsion. The purpose of this study was to supplement scrotal scintigraphy with sonography to determine if the combination improves diagnosis and management compared with scintigraphy alone. Forty-three scrotal scintigrams and sonograms were performed on 40 consecutive patients with acute scrotal symptoms. The interpretation of the scintigram was altered by sonography in six (14%) of the combined scans, directly affecting clinical management. In three patients with acute hydroceles diagnosed by sonography, exploratory surgery was avoided despite scintigraphic findings suggesting testicular torsion. Scintigraphy was normal in two patients with spontaneous testicular detorsion, whereas sonography showed recent spermatic-cord torsion that required subsequent orchiopexy. In a patient with epididymitis and orchitis, sonography showed a complicating scrotal abscess, which was not apparent on scintigraphy and which required antibiotic treatment. The addition of sonography to the scintigraphic evaluations of children with acute scrotal abnormalities changed the diagnosis and clinical management in 14% of the patients studied.

A mother and daughter with osteosclerotic dysplasia are described. The daughter had generalized osteosclerosis, flattening of the angles of the mandibles, high-arched palate, mandibular and facial bone hypoplasia, a large sella turcica, and spacious foramen magnum, platybasia, basilar impression, widened spinal cord with enlarged intervertebral foramina, and scalloping of the posterior surfaces of the vertebral bodies. Radiographic contrast studies and operative intervention revealed multiple thoracic and lumbar meningoceles and an "empty" sella, as well as evidence of maldevelopment of the spinal cord, cerebellum, and cerebral cortex. Many of these skeletal features were noted to a lesser degree in the asymptomatic mother.

Segmental lung resection was performed in 5 infants with congenital lung disease. The lesions were cystic adenomatoid malformation in 2, congenital cystic disease in 2, and congenital lobar emphysema in 1. A higher than expected incidence of major segmental bronchovascular anomalies was encountered (3 of 5 patients). Other than prolonged air leak in 1 patient, complications were negligible. All patients were well from one to six and one-half years after operation. Segmentectomy is a sensible operation for congenital pulmonary disease and ultimately may have as its greatest virtue the preservation of normal lung tissue.

Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.

Radiation exposure of the newborn during routine chest and abdominal radiographic examinations has been determined. The exposure has been measured at sites representing the entrance and exit chest, entrance, midline, and exit abdomen, the gonads, and the thyroid. Results of these measurements are reported as a function of kVp and in terms of mR received at the anatomical site per mR output of the generator at 24 in. (61 cm). This reporting procedure facilitates application of the results to exposure estimates under similar conditions at other institutions.

In infants with persistent vomiting without bile staining, in whom congenital hypertrophic pyloric stenosis has been excluded, an upper gastrointestinal roentgenogram may show antral obstruction. Of four infants with partial gastric outlet obstruction described by the authors, an antral membrane was demonstrated radiologically in two. Other causes of antral obstruction, such as granulomatous disease, hour-glass deformity of the antrum, cholecystogastrocolic band and antral dysmotility, were considered and excluded as the cause of the vomiting. After medical management failed, gastroscopy revealed a rigid stenotic circumferential area in the antrum in all four infants. An antral membrane was not found. Laparotomy confirmed this finding and a pyloroplasty successfully resolved the symptoms. Localized rigidity and narrowing of the pyloric antrum, masquerading as an antral membrane radiologically, should be considered among the causes of gastric outlet obstruction in infancy. Treatment is determined by the severity of the symptoms. Pyloroplasty is successful when medical management fails.

Clinical evaluation of the usefulness of primary beam filtration with erbium to achieve marked reductions in radiation exposure and dosage was undertaken. We evaluated 250 routine pediatric radiographic and 100 contrast examinations. An additional 52,727 radiographic and 4745 fluoroscopic examinations were analyzed prospectively by evaluation of subjective film quality. Radiation exposure and dosage reductions ranged from 57% at 50 kVp to 36% at 80 kVp and 39% at 120 kVp. These reductions were obtained in addition to those previously attained by using a 600-speed gadolinium oxysulphide screen/film system (Trimax 12, XDL). The erbium filter requires that the tube current be increased to approximately double that without the filter (in the most commonly used range of 60-100 kVp). However, tube loading is already so low with the 600 system that this effect on wear is considered inconsequential. This ultra-low-dose rare-earth beam filter and screen/film combination results in films with no demonstrable loss of overall quality, plus a subjective slight improvement in contrast definition for iodine and barium contrast studies. The addition of erbium foil beam filtration to existing rare-earth screen/film technology results in what is currently the ultimate in low-dose conventional radiographic imaging.

Twenty-seven ill neonates with enterovirus infections were studied to learn if enterovirus infection can be distinguished from neonatal sepsis. Enterovirus infection was associated with the summer-fall season (93%), recent maternal illness (59%), absence of other perinatal problems (81%), and findings of fever (93%), viral meningitis (62%), diarrhea (81%), and rash (41%). Four children developed thrombocytopenia and three necrotizing enterocolitis. Three children died, all with Coxsackie B virus infections that likely were acquired in utero. Although no single feature is pathognomonic, this constellation of epidemiologic and clinical findings, coupled with negative bacterial cultures, should suggest the possibility of neonatal enterovirus infection.

A real time fluoroscopic imaging system which provides capability for reduced patient exposure by as much as a factor of five has been developed. Modifications to the system include the incorporation of a variable aperture iris between the image intensifier output phosphor and television camera and the use of the video signal as the feedback element in the fluoroscopic automatic exposure rate control system. Quantitative and qualitative performance of the system is described.

The diagnosis of foreign body aspiration into the lower airway depends primarily on the radiographic demonstration of partial bronchial obstruction causing localized air trapping or atelectasis, present in 95 per cent of the cases. Endotracheal foreign bodies may often be visualized directly on high kilovoltage radiographs of the airway of the airway or by fluoroscopy. In three of the four cases presented in this report, radiologic evaluation was normal, but endotracheal foreign bodies were subsequently demonstrated endoscopically. Foreign objects may remain in the trachea for prolonged periods of time, causing persistent coughing, wheezing, or stridor. When there is a clear history or strong suspicion of foreign body aspiration in a patient with persistent symptoms, bronchoscopy should be used for diagnosis and treatment.

We performed a randomized prospective study of the effect of placement position of umbilical-artery catheters on complication rates in high-risk newborn infants. A higher complication rate (31 of 40 vs. 13 of 33) (P less than 0.005) occurred in the group with the catheter tip at the third to fourth lumbar segment, as compared to those with the tip at the seventh to eighth thoracic segment, owing to more episodes of blanching and cyanosis of the extremities. There was no difference between groups in the rate of complications requiring catheter removal. Aortography revealed thrombosis in 21 of 23 patients studied, but there was no clinical evidence of impaired circulation. In retrospect, we found that, independently of catheter position, administration of antibiotics through the catheter was associated with an increased rate of complications (63 vs. 20 per cent). Umbilical-artery catheterization entails potential risks regardless of the position of the catheter; placement of the catheter with its tip at the seventh to eighth thoracic segment may be associated with fewer complications than at lower positions.

A newborn baby presented with hyaline membrane disease, interstitial pneumonia, jaundice, hepatosplenomegaly, and unusual bone manifestations with lytic and sclerotic bone lesions and virtually absent periosteal reaction. He subsequently developed intracranial calcifications and mental retardation. The pneumonia and hepatosplenomegaly resolved. At the time of the delivery, a sibling was suffering from a severe undetermined viral infection. The clinical evolution of the disease and the radiologic findings led us to believe that this patient had a prenatal viral infection. The laboratory tests and the histologic picture of the bone biopsy supported the diagnosis.

Seven years' experience (1965-1972) with neonatal pulmonary hemorrhage at the University of Colorado was reviewed. Pulmonary hemorrhage still occurs frequently as a preterminal event in hyaline membrane disease. As an isolated "pure" entity, however, pulmonary hemorrhage has shown a marked decline. This phenomenon is probably related to advances in neonatal intensive care. The radiographic pattern of "pure" pulmonary hemorrhage in the newborn is most commonly a diffuse alveolar infiltrate. Since pure hemorrhage is now an uncommon entity, the radiologist can reasonably suggest this diagnosis on rare occasions only, in the clinical setting of profound hypoxia.

Previous attempts to determine a sonographic appearance characteristic of neuroblastoma have had diverse results. Sonograms of 53 abdominal tumors, including 10 neuroblastomas, imaged during 1982-1986 were reviewed. Four of the patients with neuroblastoma had a distinctive sonographic "lobule" of increased echogenicity in a part of the larger tumor mass. This sonographic appearance was secondary to the growth pattern of the tumor and was not cell specific. Correlative CT scans in two of the four patients did not differentiate this lobule. Histologically, the lobule was an aggregate of uniform neuroblastoma cells (marginated by reticulin and collagen) without hemorrhage, necrosis, or calcification. This tissue pattern was not seen in any of the other 43 neoplasms, including 12 Wilms' tumors. When identified sonographically, the lobule identified in this study seems specific for neuroblastoma and is a valuable diagnostic sign in children with an abdominal mass.

All intracranial IV digital subtraction angiographic examinations performed over the past 2 years were reviewed retrospectively to ascertain the uses and limitations of this technique for the evaluation of pediatric intracranial disease. Of the various abnormalities studied, this imaging technique was particularly useful in diagnosing venous and dural sinus abnormalities; in screening for suspected large aneurysms, vascular malformations, and major arterial occlusive disease; and in preoperative vascular mapping. IV digital subtraction angiography has selected usefulness in confirming brain death, in evaluating cerebral ischemia, in identifying vascular abnormalities underlying intracranial hemorrhage, and in evaluating vascularity and sinus extension of masses. The IV route for digital subtraction angiography is not useful in diagnosing segmental arterial occlusive or small-vessel disease, nor is it useful in preoperative localization of specific arterial supply to arterial venous malformations, aneurysms, or neoplasms. IV digital subtraction angiography can be performed successfully in children of all ages with minimal patient morbidity. For most patients, the diagnostic information obtained was adequate without the need for standard cerebral arteriography.

Experience with intravenous digital subtraction angiography (DSA) in infants and children is limited, although its relative ease of performance, low complication rate, and diagnostic accuracy indicate great potential. We performed 87 DSA examinations (74 patients) and obtained sufficient detail to facilitate diagnosis in most cases. The major problems of patient movement and overlapping vessels can be minimized by judicious use of sedation and strict attention to technique. Exposure of patients to radiation has not been a limiting factor since our system uses low exposure factors (2-38 mR [.51-9.76 mu C/kg]/frame). Our results demonstrate that DSA has wide applicability to many organ systems and is especially useful in intracranial disease and for preoperative evaluation of neoplasms. More specific indications for its use in children must await further correlative studies.

A fluoroscopic system was modified to achieve a 95-98% reduction in radiation exposure and dosage to patients compared with other systems that reduce fluoroscopic radiation dosage. This reduction was accomplished by custom selection of a high conversion-factor, triplemode image intensifier; custom design of a variable-dose rheostat, allowing maximum operator control of video camera gain; installation of an erbium rare-earth beam filter on the x-ray tube; and addition of a digital noise reducer (recursive filter). A total of 1,577 fluoroscopic examinations has been performed on this system, with excellent results. Contrast resolution was increased, while spatial resolution was maintained. Noise (quantum mottle) has been reduced by the addition of a digital image processor. Advantages of the ultra-low-dose system include: all fluoroscopic work is performed in a smooth, continuous real-time mode; the radiation exposure and dose saving is significantly greater than with pulsed and other proposed low-dose fluoroscopic systems; and the system automatically adapts for the wide variation in patient size routinely encountered in pediatric and adult radiology. The image quality is now such that this system could be used routinely for both adults and children.

A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia. Two other families each have one or the other of these diseases but not both. The three families are distantly related.

As an alternative to lobectomy and in order to preserve lung tissue which may be potentially functional we have selectively intubated the right main bronchus in four infants 12 to 25 days old with severe, pulmonary interstitial emphysema of the left lung. In each case the localized hyperinflation disappeared within 5 to 48 hours of contralateral selective bronchial intubation. The duration of SBI was 1.5 to 5 days. Three patients benefited from the procedure; there were no serious complications. We propose that SBI should be tried in infants with severe, localized PIE which has caused mediastinal shift, compressive atelectasis, and respiratory acidosis requiring mechanical ventilation despite vigorous pulmonary therapy and usual supportive measures.