A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia, generally identified clinically at two years of age due to decreased linear growth and a waddling gait. Radiographic features include small and irregular epiphyses, with metaphyseal changes of the long bones and characteristic vertebral changes. Mutations in the COMP gene cause PSACH and some cases of multiple epiphyseal dysplasia. Mutations generally cluster in the calmodulin-like repeat regions of the gene. Mutations in exon 13 (encoding the seventh calmodulin-like repeat) have been associated with severe short stature (-6 SD) in PSACH. We examined an Inuit boy with PSACH and severe short stature. Height essentially remained at -1 SD on the PSACH growth curve (-7.5 SD on a normal growth curve at 10.5 years). Analysis of COMP in our patient revealed a previously undescribed heterozygous A>T substitution in exon 8, at nucleotide 812. This change in the sequence resulted in replacement of a highly conserved and negatively charged aspartic acid with an uncharged, hydrophobic valine at amino acid position 271. Both unaffected parents were negative for this genetic change. This exon encodes the first calmodulin-like repeat, which has not been previously implicated in severe short stature. We propose that this novel missense substitution is responsible for the phenotype of this patient.

Central ray deficiency with extensive syndactyly: a dilemma for classification.

Split Hand Foot Malformation (SHFM) (cleft hand/foot, central ray deficiency) is a complex, highly variable anomaly involving the hands and/or feet. A clinical epidemiologic study of split hand/foot (central ray deficiency) of the Manitoba population identified a subset of patients who did not present with either typical or atypical split hand. Clinically, some patients presented with "mitten hand" syndactyly; the deficiency was not recognized before imaging. In this paper, we identify additional similarly affected literature cases, review existing classifications of split hand and syndactyly and attempt to classify these patients. This group presents a challenge for classification and genetic counseling. General classifications permit inclusion of patients with diverse phenotypes; however, details are overlooked. Osseous fusions and disorganization of osseous components complicate classification. Many of these patients had findings that overlapped different subtypes within existing classifications. This cohort highlights the importance of imaging patients with distal limb anomalies. An effective classification scheme should include relevant clinical and radiographic findings in order to assist clinicians following these patients.

Discrepancies in upper and lower limb patterning in split hand foot malformation.

Discrepancies in upper and lower limb patterning in split hand foot malformation. Split hand foot malformation (SHFM) is genetically heterogeneous with five loci mapped to date. Highly variable in presentation, it can occur as an isolated finding or with other anomalies. The genetic heterogeneity and clinical variability make genetic counselling of SHFM families challenging. By establishing genotype/phenotype correlations, one can provide insight into responsible developmental genes and help to direct mapping efforts and target genetic testing, ultimately providing more accurate information for family members. Preaxial involvement of the upper extremities was a significant discriminating limb-specific variable in our analysis of genetically mapped SHFM cases. This finding, which was originally identified through descriptive epidemiology, was subsequently confirmed by discriminant function analysis (p < 0.0001) to be a significant locus discriminator. Preaxial involvement of the upper extremities was most commonly seen at the SHFM3 locus mapped to chromosome 10q24 (OMIM 600095) and consisted of proximally placed thumbs and/or triphalangeal thumbs (TPT), preaxial polydactyly and/or absence of the first ray. These patients' feet, however, tended to show a classical central longitudinal deficiency without a significant preaxial component. This article discusses this discrepant clefting pattern between the upper and lower extremities and proposes potential mechanisms.

Paediatric personnel extremity dose study.

Concern has been expressed in paediatric radiology regarding the magnitude of the extremity dose received by attending personnel during routine fluoroscopic procedures and CT. Common procedures that may be of short duration in adults can be quite the opposite in paediatric patients. The extremities of attending personnel are more likely to be exposed to the primary beam and for a longer period of time owing to a variety of reasons such as assisting in the procedure or physically restraining the patient during the examination. During the period mid 1998 to mid 2000, two paediatric radiologists, four senior radiographers and two paediatric nurses were monitored using ring thermoluminescent dosemeters (TLDs). Each participant wore the ring TLD on either the left or right ring finger, depending on which hand the individual favoured. Left/right asymmetrical studies were not conducted, nor were records kept of whether an examination used a grid or gridless technique. Initial apprehension about higher paediatric fluoroscopic and CT extremity doses was dispelled as a result of this quantitative dosimetric study.

Analysis of the value of imaging as part of the follow-up of splenic injury in children.

OBJECTIVE: A recent article suggested that routine follow-up imaging is still frequently used in the conservative management of splenic trauma in children. The purpose of this study was to use decision analysis to assess the value of routine imaging as part of the long-term follow-up of splenic injury in children managed nonoperatively. METHODS: A literature review (1970-1999) on the management of blunt splenic trauma in children was performed. Data, including the use of follow-up imaging and the occurrence of delayed splenic rupture and death, on those patients managed nonoperatively were collected. The data were used to construct a decision tree. A Poisson distribution was used to determine the risk of delayed splenic rupture. RESULTS: Information was extracted from 26 cohort studies. Nineteen of these studies were retrospective and six were prospective. One study had both retrospective and prospective arms. The study population consisted of 1,083 children. Of these patients, 920 (85 %) underwent routine follow-up imaging (US, CT, or scintigraphy). Follow-up imaging was either not performed or selectively performed in 163 patients (15 %). No cases of post-discharge splenic rupture or death were encountered in any of these groups. The maximum risk of delayed splenic rupture in the entire group was 0.3 % (0-3.7 cases). CONCLUSION: The risk of delayed splenic rupture following blunt injury in children is very low, and is apparently unaffected by imaging protocols. No deaths, even in cases of delayed presentation, were identified in our study. These findings do not support the use of routine follow-up imaging of children with blunt splenic trauma.

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

CODAS syndrome (MIM# 600373) is a rare multiple congenital anomalies syndrome. The disorder is highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). To date, there have been two affected female children reported. The first was a Canadian girl of Mennonite descent, reported by our group, and the second was a girl from Brazil. The etiology and pattern of inheritance of CODAS is unknown. Herein we report a third affected child, a Canadian male infant of Mennonite ancestry. The child, now two years old, exhibits ptosis, cataracts, overfolded ears, grooved nasal tip, dental projections, developmental delay, and characteristic skeletal anomalies. The findings are characteristic for CODAS syndrome. All investigations including karyotype, metabolic screening, peroxisomal studies, and studies of cholesterol biosynthesis were normal. The underlying defect responsible for CODAS syndrome remains unknown. Many of the features suggest a possible underlying collagen gene defect. The fact that this child is the second child from the Manitoba Mennonite community, a genetic isolate, suggests the possibility of autosomal recessive inheritance. To date, there has not been a familial recurrence.

A novel quality assurance method in a university teaching paediatric radiology department.

Primary diagnostic equipment in a paediatric radiology department must perform at optimal levels at all times. The Children's Hospital Radiology Department in Winnipeg, Canada, has developed an impartial means of reporting radiographic image quality. The main objectives of this study programme were two-fold. First, to monitor diagnostic X-ray equipment performance, and second, to improve the resultant image quality as a means of implementing the fundamental concepts of continuous quality improvement. Reading radiologists completed a quality assurance (QA) card when they identified a radiographic image quality problem. The cards were subsequently collected by the clinical instructor who then informed, in confidence, the radiographers of the written comments or concerns. QA cards have been conspicuously installed in the paediatric radiology reading room since the middle of 1993. Since its inception, equipment malfunction has been monitored and indicators for improving image quality developed. This component of the QA programme has shown itself to be a successful means of communicating with radiographers in maintaining superior image quality.

Sir William Osler and John Hunter.

"John Hunter ..... the man in whose phenomenal personality may be seen all the distinctive traits of modern medicine, and the range of whose mighty intellect has had few, if any, equals since Aristotle".

Variation in utilization of computed tomography scanning for the investigation of minor head trauma in children: a Canadian experience.

OBJECTIVES: To compare the utilization rates of CT scans in investigating minor head trauma in children in Canada, to identify the injuries determined by these scans, and to identify clinical findings that are highly associated with its diagnosis and the injury itself. METHODS: A retrospective cohort study involving nine pediatric hospitals in Canada was conducted. A structured data collection method was used. Inclusion criteria included age 16 years or less, history of blunt head trauma, and a Glasgow Coma Scale score (GCS) greater than or equal to 13. Data collected included demographic information, type of injury, relevant clinical information, computed tomography (CT) scan data, and clinical outcome. Clinical findings associated with CT scan and positive CT scan were identified using logistic regression. RESULTS: One thousand one hundred sixty-four children were included in the study. One hundred seventy-one (15%) had a CT scan, of which 60 (35%) were abnormal. There was a significant difference in the rate of ordering of CT scans among the participating hospitals, but no significant difference in the rate of abnormal CT scans. Mechanism of injury, GCS, and loss of consciousness were significantly related to the presence of an abnormal CT scan. CONCLUSIONS: Although there is a significant difference in the utilization of CT scans to investigate minor head trauma in children across Canada, there is no significant difference in the frequency of head injuries in these patients. This suggests that it may be possible to determine clinical criteria that are predictive of a head injury in these patients.

Features of calcaneonavicular coalition on coronal computed tomography.

OBJECTIVE: To determine the findings of calcaneonavicular coalition on coronal CT. DESIGN: We retrospectively reviewed the CT scans of 14 calcaneonavicular coalitions in eight patients. All coalitions were visible on the axial scans, and the diagnosis was confirmed by surgery in five patients. These CT scans were compared with scans of ten normal feet. RESULTS: We identified two features of calcaneonavicular coalition on coronal CT: lateral bridging (an abnormal bony mass lateral to the head of the talus) and rounding of the talus. All eight patients demonstrated at least one of these two findings. CONCLUSION: Although calcaneonavicular coalition is best seen on axial CT scans of the feet, there are two abnormalities, lateral bridging and rounding of the head of the talus, which should suggest the diagnosis on coronal CT scans.

Cause and clinical characteristics of rib fractures in infants.

OBJECTIVE: Rib fractures are uncommon in infancy and, when diagnosed, often raise the suspicion of child abuse. However, the prevalence of other causes of rib fractures has not been well defined. The purpose of this study was to determine the causes and clinical presentations of rib fractures in infants <12 months old. METHODS: Retrospectively, we identified all infants with rib fractures under 12 months old over a 3-year period using computerized databases at the Children's Hospital Medical Center in Cincinnati, Ohio and at the Children's Hospital, Winnipeg, Manitoba, Canada. Data extracted from the individual patient charts included: age, sex, chief complaint, number and location of rib fractures, associated injuries, birth history, history of cardiopulmonary resuscitation, and any evidence of bone dysplasia. After the chart review and a review of the radiographs by a pediatric radiologist, all fractures were determined to be attributable to one of the following causes: child abuse, birth injury, bone fragility, or accidental trauma. A determination of abuse was made when there were other injuries indicative of abuse, there was no clinical or radiographic evidence of bone fragility, there was a confession of abuse, when no reasonable history of trauma was provided, or when the history was not plausible to explain the rib fractures. Standard practice at these hospitals involves obtaining skeletal surveys on all children <2 years old when abuse is suspected. The child abuse team, which consists of physicians, nurses, and social workers, conducts these investigations and works closely with police in evaluating these children. RESULTS: Thirty-nine infants with rib fractures were identified. Thirty-two (82%) were caused by child abuse. Three (7. 7%) were attributable to accidental injuries, 1 (2.6%) was secondary to birth trauma, and 3 (7.7%) were attributable to bone fragility. All 3 infants with fractures from accidental injury had sustained notable trauma (a motor vehicle collision, a forceful direct blow, and a fall from a height). Of the 3 infants with fractures secondary to bone fragility, 1 infant had osteogenesis imperfecta, 1 infant had rickets, and 1 infant, who was born at 23 weeks' gestation, had fragile bones attributable to prematurity. CONCLUSIONS: Most rib fractures in infants are caused by child abuse. Although much less common, rib fractures can also occur after serious accidental injuries, birth trauma, or secondary to bone fragility. A thorough clinical and imaging evaluation is mandatory.

Premature epiphyseal fusion and degenerative arthritis in chronic recurrent multifocal osteomyelitis.

A 9-year-old boy was diagnosed with chronic recurrent multifocal osteomyelitis affecting multiple sites. During an 8-year follow-up he developed premature closure of a distal radial epiphysis and degenerative changes in the adjacent radiocarpal joint.

The axolotl as an animal model for the comparison of 3-D ultrasound with plain film radiography.

We assessed the usefulness of an animal model, the axolotl (Ambystoma mexicanum), in comparing 3-D ultrasound (3-D US) and plain film radiographs. Hindlimbs were amputated from 5 animals, at either the zeugopodial or stylopodial level, and each regenerating limb was imaged 16 times with 3-D US and 14 times with plain film X ray over 315 days. US images were acquired with a Siemens Sonoline Versa Pro and a 10-MHz linear array transducer. For 3-D US images, the probe was translated in a motor-driven linear stage while images were digitized. The regenerating tibia and fibula bones were detected on 3-D US an average of 37 days earlier than on plain film radiography, and regenerating phalangeal bones were detected on 3-D US an average of 18 days earlier. After 120 days, both imaging modalities consistently showed the bones. The average bone growth rates for the tibia and fibula were 0.019 +/- 0.001 mm/day and 0.019 +/- 0.001 mm/day, respectively.

SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.

We report on a young Mennonite child born with short stature, atresia of the external auditory canal, mandibular hypoplasia, and skeletal anomalies. The skeletal defects consist of bilateral humeral hypoplasia, delayed ossification of the pubic rami, and the previously unreported anomaly of humeroscapular synostosis. This girl is the product of a consanguineous mating. This phenotype is unique and does not match that of any previously described condition.

Biliary tract complications of side-to-side without T tube versus end-to-end with or without T tube choledochocholedochostomy in liver transplant recipients.

BACKGROUND: Biliary anastomotic complications remain a major cause of morbidity in liver transplant recipients, ranging between 10% and 50% in large clinical series. An end-to-end choledochocholedochostomy with or without T tube (CDCD EE with T tube and CDCD EE w/o T tube) and a Roux-en Y choledochojejunostomy have been standard methods for biliary drainage. METHODS: The objectives of this retrospective study were to: (1) evaluate the incidence of biliary tract complications using a new method of side-to-side choledochocholedochostomy without T tube (CDCD SS w/o T tube) and (2) compare the results of CDCD SS w/o T tube with those of CDCD EE with T tube and CDCD EE w/o T tube. From September 1991 through June 1996, 279 orthotopic liver transplants were performed in 268 patients and followed through December 1996 (minimum of 6 months' follow-up). A total of 227 CDCD anastomoses in 220 patients were studied (7 retransplants > 30 days): CDCD EE with T tube (n=124), CDCD EE w/o T tube (n=44), and CDCD SS w/o T tube (n=59). RESULTS: Sixty-nine biliary complications were observed in 220 patients (30%). Anastomotic and/or T-tube leaks were seen in 43 patients (19%), and anastomotic strictures were found in 26 patients (12%). Forty patients (18%) required percutaneous or endoscopic stent placement (6%) or surgical interventions (12%). CDCD EE with T tube had the highest incidence of biliary leak requiring rehospitalization but the lowest anastomotic stricture and intervention rate and the lowest 6-month mortality rate. CONCLUSIONS: CDCD EE with T tube was superior to CDCD EE or CDCD SS w/o T tube despite the increased number of rehospitalizations. CDCD SS w/o T tube did not offer significant advantages over conventional biliary anastomotic techniques.

Pulmonary blastomycosis in children: findings on chest radiographs.

OBJECTIVE: The purpose of this study was to identify characteristic radiographic findings in children with pulmonary blastomycosis. SUBJECTS AND METHODS: We reviewed the charts and radiographs of 18 children with culture-proven acute pulmonary blastomycosis. The 10 boys and eight girls were from 1 to 16 years old. Sixteen were Native Canadian Indians, and two were white. All available chest radiographs, including those obtained in follow-up after treatment was terminated, were reviewed by a pediatric radiologist. Consolidation was classified by location and extent, and other abnormalities were noted. RESULTS: Initial chest radiographs showed consolidation in 16 patients. Seven patients had single lobe involvement, most commonly of the left lower lobe. Nine patients had multiple lobe involvement. The left lower lobe was most commonly involved in these cases, but the middle lobe was most severely affected. The upper lobes were involved only in children with multiple lobe disease and were only mildly affected. Cavitation developed in two patients, followed by bronchogenic spread of the disease. Pleural effusions were seen in three patients; two also had rib lesions. Hilar adenopathy developed in two children. Five patients had radiographs available, which had been obtained more than a year after onset, and three of these were abnormal. CONCLUSION: The most common radiologic finding in children with pulmonary blastomycosis is pulmonary consolidation in one or several lobes, which may undergo cavitation. Lymphadenopathy and pleural effusions are uncommon. Chronic abnormalities may develop.

A criterion for a true lateral radiograph of the elbow in children.

In the search for a fracture of the elbow in children, the position of the anterior humeral line is a valuable aid. It has been stated that a true lateral radiograph is required to use this sign, although no criteria for assessing true laterality have been described. To develop such criteria, the authors examined 74 lateral radiographs of the elbow for 42 patients ranging in age from 9 months to 5 years, 9 months. Thirty-five of the patients did not have supracondylar fractures, and 7 did. In all of the radiographs the direction and degree of rotation, as well as the position of the anterior humeral line, were assessed relative to a series of radiographs of a cadaveric humerus in standardized positions. Examination of the humeral anatomic features in the radiographs showed that superimposition of the posterior supracondylar ridges of the humerus is the best means of confirming true laterality. This criterion is easily applied to lateral radiographs of the elbow in children. Of the radiographs reviewed, only seven were considered to represent true lateral views. Of those exposed in other degrees of rotation, the anterior humeral line gave a false indication of fracture in 19.

Staging of healing of femoral fractures in children.

Although the rate of fracture healing has been studied in adults, little such work has been done in children. The authors' objective was to develop staging criteria for assessing callus formation in fractures in children and to determine the relation between the age and sex of the patient and callus formation. They studied callus formation in healing fractures of the femoral diaphysis in 25 patients, 15 boys and 10 girls, ranging in age from birth to 14 years. The patients were selected on a random basis from children presenting with femoral fractures (and no other injuries) to a tertiary-care pediatric hospital in Winnipeg over the period 1988 to 1991. The following staging criteria were developed from other examples of femoral fracture: stage 1, earliest radiographically visible calcification of the callus; stage 2, callus completely bridging the fracture site; and stage 3, mature callus. For the patients in the study, the average times to reach stages 1, 2 and 3 were 11.7, 18.7 and 55.3 days respectively. The sex of the patient had no effect on callus formation. The final stage of healing appeared to take longer with increasing patient age, although this observation was not statistically significant.

Contact thermography in the diagnosis of childhood migraine.

The objective of our prospective study was to assess the role of contact thermography in children with migraine. Contact thermograms were done in 54 children aged 4.2-16.5 years (median 10.5 years), who were seen for headache and on 10 age-matched controls, between July and December 1991. Thermograms were interpreted as definitely normal, equivocally normal, equivocally abnormal, and definitely abnormal by a radiologist who was blinded to clinical information. Forty-eight children had the test between headaches; of these, four out of 26 patients (15%) who had migraine without aura and 3 out of 14 children (21%) who had migraine with aura had definitely abnormal thermograms. Nine out of 10 normal controls had definitely normal thermograms. The sensitivity of contact thermography in the diagnosis of childhood migraine, when done between headaches, was low in our study.