Biomedical subjects
Publications and source records attributed to T Ben-Ami.
We report a family with a form of brachydactyly that involves characteristic features of types A2 and D brachydactyly plus features found in other types of brachydactyly and also features not previously noted. This set of findings represents a new syndrome, which we have termed brachydactyly type A7 (Smorgasbord).
To determine the frequency of vesicoureteral reflux (VUR) in boys, the authors retrospectively studied 724 boys who underwent voiding cystourethrography for the first time. VUR was identified in 196 of these patients (27.0%). Urinary tract infection was the indication for cystourethrography in 188 patients (25.9%), 80 of whom (42.5%) had VUR. Hypospadias was the second most frequent indication (179 patients [24.7%]), with VUR present in 32 (17.8%). A significant frequency of VUR was demonstrated in boys studied for various other conditions. Excretory urography in 588 boys revealed congenital anomalies of the upper urinary tract in 72, with VUR in 26 (36.1%), which was significantly higher than that in boys with hypospadias (P greater than .01). There was no significant difference between the frequency of VUR in boys with hypospadias with or without meatal stenosis (P greater than .9) and in boys with meatal stenosis with or without hypospadias (P greater than .9); thus, VUR seems to be independent of mild urethral obstruction and hypospadias. VUR was more frequent in boys with posterior urethral valves (62.5%, P less than .002). VUR in boys with urinary tract infection is as common as in girls. In most cases, its frequency in many apparently unrelated conditions is suggestive of its primary nature.
A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.
Two infants of 24 and 20 months of age with painful local swelling at the femoral and clavicular regions were investigated by ultrasound after a negative radiographic study of the adjacent bones. In both children high resolution ultrasound clearly revealed the presence of bone fractures in addition to the soft tissue hematomas. These fractures were confirmed by a repeat radiographs performed 6 and 8 days later. Although sonography is not the method of choice for the detection of bone fractures, it may be worthwhile to examine the bone contour for a fracture when a painful swelling adjacent to bone is present. The method may be particularly rewarding in children due to its rapid non-invasive nature and to the small tissue thickness that has to be penetrated.
Computed tomography (CT) was used in five children, four with esophageal and one with airway trauma. The examination contributed valuable information that aided in planning and evaluating therapy: (1) it assessed mediastinal and pleural cavity involvement prior to surgery or drainage; (2) it evaluated the efficacy of drainage; (3) it gave excellent information about the position of chest tubes; and (4) it demonstrated unsuspected pneumothoraces, pleural effusion, pulmonary infiltrates, and lung perforation by a chest tube. In the postoperative assessment of laryngotracheal fracture, neck radiographs were useless since the airways were obliterated by hematomas and edema. In this situation, CT showed the position and state of the laryngeal cartilages. However, CT findings were not pathognomonic for esophageal tears or airway fractures. The primary diagnosis was still made by conventional radiography. Esophageal tears were accurately demonstrated by gastrografin swallow and the tracheolaryngeal fracture was diagnosed by a lateral neck radiograph--the state of the child permitting no lengthy workup. CT and conventional radiography with contrast studies play a complementary role in esophageal and airway trauma in children.
A detailed account is given of a 19-month-old female infant with partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. Although the etiology is unknown, we believe this constellation of findings, which has been reported previously, represents a new congenital malformation syndrome.
A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.
A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology.
A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.
Forty infants and children were accurately diagnosed with real-time ultrasound (US) as having megaloureter secondary to ureterovesical junction (UVJ) obstruction by an adynamic, distal ureteral segment. Characteristic US findings were dilatation of the distal ureter, often disproportionate to the appearance of the upper collecting system; lower ureteral hyperperistalsis; and a sharply tapered, incurving, distal adynamic segment, 1-3 cm long. Real-time US, used routinely in preliminary evaluation of the urinary tract in children, can facilitate early diagnosis of UVJ obstruction and thus prevent significant loss of renal function.
Periventricular leukomalacia (PVL) is a pathological entity characterized by ischemic changes in areas adjacent to the external angles of the lateral ventricles. It is associated with serious neurodevelopmental sequelae, especially spastic diplegia. With the increased use of ultrasound in the Neonatal Intensive Care Unit, changes consistent with PVL are being noted. Hemorrhagic and nonhemorrhagic forms of this condition exist, both of which may appear sonographically as increased periventricular echogenicity. Two cases of PVL are described; one of them was associated with ventricular dilatation and intraventricular bleeding and the other with a small subependymal hemorrhage. The pathological and clinical features, methods of in vivo diagnosis, and the role of ultrasound in the evaluation of PVL are discussed.
A prospective ultrasonic evaluation of the pylorus was performed in two groups of infants, a control group and a group of infants clinically suspected of having hypertrophic pyloric stenosis (HPS). The mean pyloric length in the hypertrophied condition was 84% longer than the mean length in the normal. The mean and standard deviation (sd) for the transverse diameter and pyloric wall thickness in the normals were 7.45 +/- 2.2 mm and 2.3 +/- 0.7 mm respectively, while the corresponding measurements for the mean and sd in HPS were 13.4 +/- 1.6 mm and 4.5 +/- 0.9 mm. In most of the HPS cases the known morphological changes of the antro-pyloric region such as: impingement on the fluid filled antrum, pre-pyloric antral thickening, extension of fluid into the proximal portion of the pyloric canal and the angle formed between antral peristaltic wave and pyloric mass, were observed. Detection of these changes furnished further criteria for highly accurate diagnosis of HPS even of borderline cases.
Excretory urography, conventional and radionuclide voiding cysto(urethro)graphy, ultrasonography, radionuclide renal imaging and computed tomography are all currently readily available in most locales for the evaluation of the child's urinary tract. It is the responsibility of the radiologist to determine which studies are best for which children and the order in which they should be performed to minimize "cost" while maximizing the information obtained. A description of such an approach and its consequences are presented.
The clinical and radiological findings in fused labia are described. Some of the patients were asymptomatic. The others were referred because of a suspicion of urinary infection. Micturating cystourethrography showed collection of contrast material above the labia and marked reflux into the vagina in all patients examined. These findings were not seen after separation of the labia. Although the diagnosis is usually a clinical one, it is suggested that labial fusion may first be recognized by the radiologist through these cystourethrographic findings and while catheterizing the child.
Carcinoma of the pancreas is rare in the pediatric population, with only 58 cases described in subjects under 16 years of age. The clinical presentation generally consists of abdominal pain and mass. We present a case of carcinoma of the pancreas in an 11-year-old girl, with abdominal pain and unusual behavior.