Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation.

We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme under-development of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded.

[Combination, transition and degrees of severity of various syndromes]. / A szindrómák kombinálódása, átmenetek, súlyossági fokozatok?

Nowadays it is difficult to recognise and separate the various syndromes. The geneticists and the morphologists often change the classification of syndromes. The problem may be caused by a new case of a known syndrome, when new symptoms are described among the known ones. Then it is not sure, if a new syndrome discovered or it is a more complicated variation of an already known syndrome. To emphasise and exemplify the difficulties of syndrome identification 5 patients are presented and analysed: on with anadysplasia, two with cleidocranial dysplasia and a sibling pair with Larsen syndrome. It is concluded that no new syndrome could be described, and in a similar context, the definition of several new syndromes is not justified. The classification of syndromes based on bone disorders must be modified in order to fit the Genetic Classification easier and more clearly.

[Acute hydrops of the gallbladder in childhood]. / Az epehólyag akut hydropsa gyermekkorban.

The authors discuss four cases of acute hydrops of the gallbladder being examined in the Department of Pediatrics, Medical University School of Pécs. Diagnosis was based on ultrasonography. In all cases right upper quadrant abdominal pain and fatigue were observed. The causes of hydrops were Kawasaki's disease, sepsis, and multiple trauma. In one case the cause was unknown. In one of the cases cholecystectomy was done, in three cases the hydrops resolved spontaneously. The authors discuss the aetiology, the symptomatology and the therapeutical possibilities of hydrops. On the basis of their results the authors suggest the importance of the serial ultrasound examinations.

[Sedation and sleep induction instead of anesthesia in infants and young children during CT and MRI examinations]. / Narkózis nélküli nyugtatás és altatás csecsemök és kisgyermekek CT és MR vizsgálatakor.

The authors recommend a simple, safe method to the CT and MR examinations of babies and young children instead of general anaesthesia. They performed 51 examinations (CT: 23, MRI: 28 cases, skul: 36, spine: 3, hip: 2, chest: 1, abdomen: 9) with this method and give an account of favourable results.

[Ultrasound-guided hydrostatic reduction of intussusception]. / Ultrahanggal vezérelt hidrosztatikus desinvaginatio.

In our country, the hydrostatic reduction is performed in three different ways. 1. A method with negative contrast material (gas enema) and fluoroscopy is performed only in one hospital. 2. A second method is performed with the use of Gastrographin and guided with ultrasound examination, and finally controlled with x-ray, this method is used in the most places. 3. Sonographically guided enema using physiological saline solution which has been performed by the authors for five years is only used in the Transdanubian region and is getting more and more popular in the resent years. The case history of 34 patients with intussusception was analysed retrospectively and the results of hydrostatic reduction with ultrasound guidance were reviewed. In 22 of 34 patients vomiting was noticed, blood in the stool was found in approximately one-third of all cases, the abdominal pain as the most important sign was presented by all patients. In 24 of 34 patients with intussusception, a single hydrostatic reduction was completely successful, but 10 patients were operated on. With the use of author's method, the following advantages were noticed: control X-ray examination was not needed, and in cases of multiple intussusception of the small intestines all of the lesions were detected.

[Developmental bone abnormalities, their variants and the delay of osteogenesis in children with leukemia]. / Csontfejlödési rendellenességek, variánsok és csontosodási kor lemaradása leukémiás gyermekekben.

When analyzing the Roentgen documentation of 102 leukaemic children, the prevalence of bone anomalies of the extremities, pelvis and vertebral column was studied. The frequency of the abnormal or unusual findings was compared with that of 660 control subjects. The frequency of osseous anomalies proved to be 2 to 3 times higher in leukaemic children tha in the controls. Considering the number of ossification centers and the presence nutritional canal of vertebrae, in leukaemic children the ossification seemed to be retarded.

[Normal percentiles of kidney size in children as measured by ultrasonography]. / A gyermekek normális veseméretének UH-vizsgálati percentilis standardjai.

The most anomaly of kidney development and urinary tract diseases have an effect on the size of the kidneys. Kidney size (renal length and parenchymal thickness) is readily measurable by ultrasonography, but the evaluation remains subjective without the use of appropriate standards. The aim of authors was, to produce a centile chart for normal kidney size based on US measurement in healthy Hungarian children. Renal length and renal parenchymal thickness (upper pole, middle part and lower pole) as well body weight and height were measured in 330 children. Normograms (centile charts) with 10th, 50th and 90th centiles were produced for body weight/height and renal length/parenchymal thickness. Renal length correlated strongly with both body weight (r = 0.93, p < 0.001) and height (r = 0.93, p < 0.001). The centile chart for renal size enables the objective evaluation of abnormal kidney size; it can help in the early recognition and follow up of urinary diseases.