A novel syndrome involving primary skeletal growth and retardation in siblings.

An identical pattern of malformations was found in two brothers both having microcephaly and severe developmental delay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of either the radius or the tibia and shortening of the first metacarpals. Persistently dorsally flexed fingers and toes were noted, all of which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessive trait.

Color Doppler sonography in the diagnosis of acute scrotum in boys.

Evaluation of acute painful scrotum is difficult and imaging studies have been reported to be unreliable in detecting testicular torsion. In order to assess the value of color Doppler sonography in acute scrotal disease, the authors reviewed 65 consecutive boys, ranging in age from 1 to 16 years. The study demonstrated absent or diminished flow signals in 11 patients. All of them had a surgical intervention, and in 8 of them, a testicular torsion was confirmed. 54 boys had a symmetrical or increased flow signal on the affected side. Just 5 boys among this group underwent surgical exploration. On follow up, none of the 54 patients with good flow signals proved to have a testicular torsion. Sonography and color Doppler sonography helped to differentiate epididymitis and torsion of a testicular appendage as a basis for further investigations and correct conservative therapy. In detecting a testicular torsion, color Doppler sonography yielded a positive predictive value of 73%, a sensitivity of 100% and a negative predictive value of 100%. We therefore conclude, that Doppler sonography can reliably rule out testicular torsion so that routine scrotal exploration in cases of acute scrotum is no longer necessary. By reducing the number of emergency operations and hospitalization days, color Doppler sonography can cut down the total cost of managing acute painful scrotum in boys.

Meconium periorchitis: case report and literature review.

Meconium periorchitis (MPO) is an uncommon entity associated with healed meconium peritonitis. The typical presentation is soft hydrocele at birth which becomes harder in weeks as the meconium calcifies. It mimics a scrotal mass, and, without knowledge of this rare disease, this may lead to unnecessary surgery. Both the masses and the calcifications have the tendency to resolve spontaneously without compromising the testicle. Sonographic features together with an abdominal plain film are diagnostic, and visualization of the normal testicle may be helpful in differentiating this tumor-like lesion from scrotal tumors. A case of a meconium periorchitis is reported on and the radiological and histological features are discussed with a literature review on the subject.

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.

A rare instance of double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia is presented. Despite midface hypoplasia, thorax deformity and lung hypoplasia, the child survived the neonatal period. Severe pulmonary hypertension, already present at birth, led to right heart failure and death at the age of 1 year.

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as "hereditary peripheral dysostosis" [Bachman, 1967: Proc R Soc Med 60:21-22; Giedion, 1969: Fortschr Rontgenstr 110:507-524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition "angel-shaped phalango-epiphyseal dysplasia (ASPED)", which may be transmitted in an autosomal-dominant manner. Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5/5), leading to Perthes-like and osteoarthritic changes and severe hip pain in the early thirties (2/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7/9) and hypodontia (4/7). Other types of ASPs are observed in brachyphalangy type C, spondylo-megepiphyseal-metaphyseal dysplasia, and other conditions. The concept of mild bone abnormalities as specific markers for genetic disease, as with cone-shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general.

[Ultrasound measurement of femur neck anteversion]. / Die sonographische Messung der Schenkelhalsantetorsion.

We introduce a simple method of sonographic determination of femoral neck anteversion in children with which the even difficult angels in terms of measurement, those up to 70 degrees, can be measured with sufficient reliability: The examination was done with a defined internal 40 degree rotation of the legs reached by a supporting wedge. We proved this method on 55 children's hips of which we already had an existing radiologic determination of the anteversion angle. Compared to the radiological results we found an average deviation of 3.6 degrees (standard deviation = 3.2).

Testicular tumours in infancy and childhood--a review of 10 germ cell tumours and 10 non germ cell tumours.

Between 1961 and 1989 twenty testicular tumours were treated at the Basel University Children's Hospital. Ten were non germ cell tumours (50%) and a further 10 (50%) were germ cell tumours. Of the germ cell tumours six were benign teratomas, two yolk sac tumours and a further two were teratocarcinomas. In the non germ cell group eight tumours originated from paratesticular structures, one of which was a malignant rhabdomyosarcoma. The remaining two neoplasms originated from the supporting testicular tissues. The clinical presentation, the protocol of treatment and the long-term outcome are discussed. We advocate local tumour excision in benign cases (proven by instant frozen section) if normal testicular tissue can be preserved. In malignant germ cell tumours primary orchiectomy and high spermatic cord ligation is the treatment of choice. Secondary chemotherapy and/or retroperitoneal lymph node dissection is only added if the tumour markers alpha-fetoprotein and beta-human chorionic gonadotropin remain present in high serum levels postoperatively. Rhabdomyosarcomas are treated by surgical excision, primary chemotherapy and radiotherapy. All of the five patients (25%) suffering from malignant testicular tumours survived. A long-term follow-up (mean 12 years) did not show any evidence of recurrent local or metastatic disease.

The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature.

A boy with the pseudo-hydrocephalic progeroid syndrome (McKusic 26409) is presented and compared to five previously reported children. The boy presented with major skeletal abnormalities, which receded during the first few months of life. Special investigations like studies on collagen, electron microscopy, and growth studies of fibroblasts did not contribute to our knowledge of the pathogenesis of this rare disease.

Zuelzer-Wilson's syndrome and absence of the enteric nervous system. Two rare forms of anomalies of the enteric nervous system with identical clinical symptoms.

47 children have been treated in Basel for aganglionosis (Hirschsprung's disease) during the last 25 years. Six children presented severe vomiting and an ileus as leading symptoms instead of chronic constipation, the classical leading symptom of Hirschsprung's disease. Clinical, radiological and intraoperative findings were virtually identical in these 6 patients. However, enzyme histochemical and immunocytochemical investigations disclosed an aganglionosis of the entire colon (Zuelzer-Wilson's disease) in 3 patients, absence of the enteric nervous system in the small and large intestine in 2 patients, and a combination of both in 1 patient. In contrast to children suffering from aganglionosis of the entire colon, the chance of survival for patients with an absence of the enteric nervous system is extremely small. It is therefore necessary in presence of severe vomiting and an ileus to take intraoperative biopsies from the large and the small intestine. The precise diagnosis can be made only by using enzyme histochemical and immunocytochemical techniques.

[Roentgen diagnosis of mandibular fractures. Studies of the macerated skull]. / Zur Röntgendiagnostik von Unterkieferfrakturen. Untersuchungen am mazerierten Schädel.

Useful radiographic positions for the roentgen diagnosis of fractures of the mandible are described and discussed. The outstanding value of orthopantomography for the entire mandible is stressed. Alternative methods are described and evaluated. A special effort is made to demonstrate the mandibular head and neck. The radiation dose required for the various mandibular views is given and a comparison is made.

[Roentgen diagnosis of midfacial fractures]. / Zur Röntgendiagnostik von Mittelgesichtsfrakturen.

The course and configuration of typical maxillofacial fractures (type Le Fort I-III) and lateral maxillary fractures including the zygomatic arch were reconstructed in detail by application of barium paste on a bony skull and radiographs in standard projections were performed and evaluated. It was obvious from the resulting radiographs that for most maxillofacial fractures a half axial or Water's view was most helpful. Lateral views only give additional information when there is a considerable degree of dislocation of fragments. Comparison with a pediatric skull of 8 years of age demonstrated that fractures of the zygomatic arch in this age group cannot be demonstrated by the typical submento-vertical view, but are shown on a Towne projection. The radiographic appearance of important maxillofacial fractures is demonstrated. The necessity of further studies in cases where reconstructive surgery appears necessary is discussed and CT rather then conventional tomography is advocated.

[Lipoma of the corpus callosum as a constituent of Goldenhar syndrome]. / Balkenlipom als Bestandteil des Goldenhar-Syndroms.

A newborn infant with clinical signs of the Goldenhar-syndrome was found to have a lipoma of the corpus callosum documented both by cranial sonography and computerized tomography. The association of lipoma of the corpus callosum and Goldenhar-syndrome is discussed and in view of the recent literature, it is concluded that lipoma of the corpus callosum like other recently observed intracranial lesions is indeed an additional manifestation within the spectrum of the Goldenhar-syndrome.

Aberrant umbilical vein.

In a female premature baby an aberrant umbilical vein was identified after catheterization of the umbilical vessels. This rare variation of the umbilical vessels consists of a connection between the umbilical vein and the inferior vena cava.

Successful conservative management of a solitary liver abscess in a premature baby.

A case report of a very small premature baby with a solitary intrahepatic abscess is presented. The diagnosis was suspected by the presence of a gas bubble on plain X-ray and confirmed by ultrasonography. Conservative therapy was successful. The value of ultrasonography in the diagnosis and follow-up of intrahepatic abscess in the newborn is stressed.

[Masqued lesions of the lung in children (author's transl)]. / Maskierte Lungenbefunde beim Kind.

Masqued findings of the lung in children can cause grave diagnostic errors. A gamut list of typical pseudodiagnoses is given. Relevant cases are demonstrated as questions and answers. Practical hints how to reach a correct diagnosis are outlined. It is pointed out that initial standard films frequently have to be complemented by special views to avoid false judgements, which could be harmful to the patient.

[Radiology of the infantile hand as a mirror of clinical syndromes (author's transl)]. / Das Röntgenbild der kindlichen hand als Spiegelbild klinischer Syndrome.

Significant radiographic findings of the pediatric hand are described as far as they are useful for the diagnosis of a suspected clinical syndrome. Normal variants that can simulate pathological findings are demonstrated. Deviations of skeletal age from chronological age and their clinical significance are discussed. Diagnostically useful malformations (hexadactyly, syndactyly, brachyphalangy, cone shaped epiphyses and anomalies of the thumb) are presented in the context of typical cases of selected syndromes. The importance of establishing a correct diagnosis in these cases is stressed with regard to individual prognosis of the patient and genetic counselling of the family.

[Diagnostic and therapeutic aspects of myositis ossificans (author's transl)]. / Zur Myositis ossificans circumscripta.

Diagnosis of localised myositis ossificans is difficult in the initial stage. A history of trauma is frequently missing. Clinical symptoms point in the direction of osteomyelitis or soft tissue abscess. Sonotomography is useful for localisation and delineation of the lesion. Biopsy is the only reliable method to establish the diagnosis. Conservative treatment is recommended until the process is inactive. Radiographic follow-up will demonstrate the expected massive calcification and scintigraphic follow-up at 6-monthly intervals will eventually prove the metabolic inactivity of the lesion necessary for successful operation. Surgical removal of the calcified tumor will become necessary in cases of continued pain or significant functional limitations of the involved extremity.