Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.

A healthy, non-consanguineous couple had a son with complete situs inversus viscerum (including dextrocardia but without other cardiac defects), broad thumbs and big toes, postaxial polydactyly, average intelligence and length proportion of the extremities, and a normal face. The common cause of these defects may have a role in the origin of sidedness and symmetry in morphogenesis.

Modern imaging methods in paediatric breast examination.

STUDY OBJECTIVE: To diagnose premature or prepubertal breast development or breast diseases. DESIGN: Harmless, non-invasive examinations were conducted on young girls by the use of ultrasound and liquid crystal thermography with discs of various sensitivity. SETTING: The study was conducted at the Radiological Department of the Postgraduate Medical University in Budapest, Hungary. PARTICIPANTS: The study entailed examination of 283 patients, all under age 14, of the paediatric gynaecological ward and the outpatient service who had breast problems. INTERVENTIONS: Aspiration cytology or surgical intervention were used only in rare cases. MAIN OUTCOME MEASURE(S): The outcome was measured based on the accuracy and expediency of the diagnostic procedures. RESULTS: The most frequent problems observed were precocious breast development, precocious pubertal development and asymmetric breasts. Precocious thelarche was observed in 117 patients, four patients were found to have cysts, and there were 59 cases of inflammation or abscess. CONCLUSIONS: Liquid crystal thermography and ultrasound proved to be sufficient and accurate means of diagnosis breast problems.

[Multiple synostosis]. / Multiplex synostosis.

A sporadic and a familial case with multiple synostosis (symphalangism syndrome) are described with the demonstration of other symptoms (e.g. fusion of middle ear ossicles with conductive deafness). The differential-diagnosis of about 15 syndromes including symphalangism is discussed.

[An unusual case of intercalary type of limb abnormalities]. / A végtaghiányos rendellenesség-csoporton belüli intercalaris típus szokatlan esete.

Authors report about a case of total lack of middle phalanxes on the 3d and 4th fingers and a hypoplasia of the surrounding phalanges on the left hand. This is the first report on this type of intercalary type in congenital limb deficiency group. They call attention to one of the so far not sufficiently emphasized hazard of previous periconceptional oral contraceptive use. If there is not enough time left for the total regeneration after the discontinuation of contraceptives, such kind of malformation may develop in the fetus due to the insufficiency of fetal-placental circulation.

The second report of Knobloch syndrome.

Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described.

[The combined occurrence of pubertal gynecomastia and varicocele]. / Das gemeinsame Vorkommen der Pubertätsgynäkomastie und der Varikozele.

Examinations of 39 men between 14 and 18 years of age revealed that half of the cases of pubertal gynaecomastia are false gynaecomasties. In reality, the patients are suffering from fibrous mastosis. It is shown that gynaecomastia is mostly accompanied by left-sided varicocele, whereas in varicocele complaints there are only few cases of gynaecomastia. It is concluded that in pubertal gynaecomastia it is necessary to determine whether the disease is merely a temporary fibrosis that will heal by itself, or whether it is a sign of some other, graver disease. On the other hand, the state of the testicles and the scrotum should be considered in every case. Surgery of pubertal gynaecomastia is considered unnecessary; however, invasive treatment of the varicocele is very important. The importance of psychological care of the patients is stressed.

Familial combination of brachydactyly, type E and atrial septal defect, type II.

Nine members of a three generation family were affected with the combination of brachydactyly, type E and heart defect, mainly atrial septal defect, type II. A similar malformation pattern of autosomal dominant origin has not previously been delineated.

[A new heart defect-brachydactyly syndrome]. / Uj "szívrendellenesség-brachydactylia"-szindróma.

A new heart malformation-brachydactyly syndrome of autosomal dominant origin is described in 9 members of three generations in a Hungarian family.

Role of ultrasonography in the differential diagnostics of neck masses.

Ultrasonography of 70 cases of palpable neck masses are analyzed. On the basis of histological diagnoses the cases are put into groups of cysts, tumors and other lesions of the neck. According to this grouping the aetiological factors are also discussed (congenital lesions: mainly cysts, lesions of the salivary glands and the parotid gland, thyroid and parathyroid diseases, vascular lesions). The diagnostic value of ultrasonography is calculated in view of the morphological signs of a given lesion. The specificity, sensitivity and the accuracy of ultrasonography in our material supports the view that in the differential diagnostics of neck masses ultrasonography is a useful, simple and effective tool.

Liquid crystal thermography in the localization of undescended testicles.

Liquid crystal thermography (LCT) for the localization of undescended testicles was performed in 28 patients, in 21 of whom ultrasonography (US) was also performed: Among the 21 operated cases, LCT correctly localized the testicles in 19, and US in 18 cases. LCT may be used in screening for undescended testicles.

Liquid crystal thermography of the thyroid.

The results of 102 thyroid liquid crystal thermography (LCT) examinations are discussed. Clinical and laboratory examination, scintigraphy, ultrasonography and LCT were performed in all of the cases. LCT is not suitable for obtaining morphological data and not accurate enough in evaluating thyroid function, but it is a good additional study. It is inexpensive, not hazardous and fast, and can be the first examination in an endocrine outpatient clinic as well as in the follow up of patients with thyroid disease.

[Value of ultrasonography in the diagnosis of bladder tumors]. / Der Wert der Ultrasonographie in der Harnblasentumordiagnostik.

The authors have compared the value of transabdominal, transrectal and intravesical ultrasonography in 100 patients with carcinoma of the bladder. They have also compared the pathological stage, determined at operation or post mortem, with the "ultrasound" stage. Transabdominal examination resulted in agreement in 61% cases, transrectal 69% and intravesical in 92%. In the authors' opinion, transabdominal ultrasonography is suitable for general orientation. It can determine the size and position of the tumour. Transrectal examination is particularly valuable if, for any reason, it is impossible to perform cystoscopy. It is also valuable for the examination of tumours localised at the bladder base. Intravesical sonography demonstrated the tumour in every case. During this examination, changes in the elasticity and distensibility of the bladder due to tumour and changes in the bladder volume can be determined. Intravesical ultrasonography carried out at the same time as cystoscopy is a rapid and highly practical procedure, which ideally supplements cystoscopy. At present it is the best method for demonstrating infiltration of the bladder wall.

[Significance and value of ultrasonography in the study of thyroid diseases]. / Stellung und Wert der Ultrasonographie bei der Untersuchung von Schilddrüsenkrankheiten.

Two hundred-fifty ultrasonic examinations of the thyroid gland were performed in 213 patients within a 2-year period. The size and the structure of the thyroid can be determined by sonography. Ultrasound proved to be of primary importance in the diagnosis of thyroid cysts and provides additional information in other thyroid diseases. Aspiration for cytological examination can be more effective with sonographic guidance. Changes during treatment can also be followed up without discontinuing the suppressive treatment.