Search PubMed⌕ Search

Biomedical subjects

G Beluffi

Publications and source records attributed to G Beluffi.

At least 73 records · Page 4Linked to original sources
PubMed1987

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

The study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis.

Bone Diseases, Developmental↗
PubMed1987

[Oto-palato-digital syndrome. Clinico-radiological study].

Oto-palato-digital (OPD) or Tyabi syndrome is a familiar, X-linked bone dysplasia with intermediate expression, in females or autosomal dominant with more severe manifestations in males. In the past both the clinical features (flat face with sunken and broad nasal bridge, antimongoloid slant of palpebral fissures, palatoschysis, conductive deafness, short and broad thumbs and big toes, nail dystrophy) and radiological findings (thick and dense base of the skull, prominence of supraorbital ridges, middle ear bone deformities with dense ossicles, large and broad vertebral bodies, posterior defects of neural arches of the vertebrae, carpal and tarsal bone fusions, short and broad nail phalanges) have been well described and established. The present report describes 7 patients (4 females and 3 males) all belonging to the same family (the first described in this country) and all presenting the clinical and radiological features of OPD syndrome. A cranial and spinal CT was performed on one patient, with peculiar findings.

Abnormalities, Multiple↗
PubMed1986

Urinary microscopy in the diagnosis of haematuria in Schönlein-Henoch purpura.

A 5.5-year-old boy with Schönlein-Henoch purpura presented flank pain, macroscopic haematuria and voiding of blood clots. Radiologic examination showed a stenosing ureteritis. Treatment with prednisone was accompanied by resolution of the urologic manifestations. Ureteritis is a potentially serious complication of Schönlein-Henoch purpura and its incidence is probably underestimated. Less than half of the reported patients have had symptoms suggesting a urologic complication. Microscopic examination of the urinary sediment can be helpful for the precocious diagnosis of ureteritis in the Schönlein-Henoch purpura.

Acute Disease↗
PubMed1986

Primary leiomyosarcoma of the lung in a girl.

Leiomyosarcoma of the lung is a type of tumour rarely found in childhood. It arises from smooth muscle either of bronchial or arterial walls, has a variable pattern of local growth, blood-borne metastatic spread with lymph nodes sparing and a clinical course characterized by fever, cough and worsening dyspnea. We report a case which occurred in a 14-year-old girl, reviewing all the other cases found in the literature.

Adolescent↗
PubMed1986

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.

Bone Diseases, Developmental↗
PubMed1986

Oto-Palato-Digital syndrome in four generations of a large family.

A new large family, affected by O-P-D syndrome is reported. Nine members in four consecutive generations have been studied. Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal. Transmission pattern may be X-linked with intermediate expression in the female or autosomal dominant with sex limitation of expression.

Abnormalities, Multiple↗
PubMed1986

[Hypertrophic stenosis of the pylorus. Ultrasound and traditional diagnosis. Comparison of methods].

Hypertrophic pyloric stenosis (HPS) is the most frequent cause of abdominal surgery during the first months of life. A new diagnostic approach to this type of pathology is given by ultrasound examination which offers the opportunity to perform a precise study of pyloric muscle thickness, pyloric diameter width and pyloric muscle length. Ultrasound provides a quick diagnostic tool sparing radiation exposure to the patient. X-ray study is only to be reserved to the few cases in which clinical and ultrasound data are doubtful and--in all instances--to rule-out other possible causes of gastric outlet obstruction. We report 20 infants (14 males and 6 females) referred with clinical suspicion of HPS. This diagnosis has been confirmed by ultrasound in 12 cases, suspected in 1 and excluded in 7 cases. Upper gastrointestinal tract series confirmed the presence of HPS in 13 cases; discovered a huge gastroesophageal reflux in one and showed normal findings in 6 cases.

Female↗
PubMed1986

Anuria due to bilateral cystine urolithiasis in an infant.

A 10-month-old female presented with anuria due to bilateral cystine urolithiasis. Although bilateral obstruction of the ureters by calculi is very rare in children, it may be the presenting feature of cystinuria even in the first year of life.

Acute Kidney Injury↗
PubMed1985

A family with the Saethre-Chotzen syndrome.

Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS III in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.

Acrocephalosyndactylia↗
PubMed1985

Rectal extrusion of the catheter and air ventriculography following bowel perforation in ventriculo-peritoneal shunt.

Ventriculo-peritoneal shunt is frequently carried out in infantile hydrocephalus. The peritoneal shunt has a lower morbidity than ventriculo-atrial shunts and severe complications are uncommon. Abdominal complications include intestinal perforation, shunt migration, inguinal hernia, cerebrospinal fluid pseudocysts and hollow viscus perforation. A few cases of catheter extrusion from the rectum, vagina, umbilicus and urethra have been described. We report a new case of intestinal perforation with rectal extrusion of the catheter associated with a ventriculogram.

Cerebrospinal Fluid Shunts↗
PubMed1985

Primary bone tumours in infants. Short literature review and report of 10 cases.

Ten cases of primary bone tumours in infants (1 osteosarcoma, 3 Ewing's sarcoma, 1 chondroblastoma and 5 angiomatosis) are reported. All cases of angiomatosis showed characteristic radiographic findings. In all the other tumours the X-ray appearances were different from those usually seen in older children and adolescents. In the authors' opinion the precise diagnosis of malignant bone tumours in infancy is very difficult as no characteristic X-ray features are present in this age period.

Angiomatosis↗