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Biomedical subjects

S Fasanelli

Publications and source records attributed to S Fasanelli.

At least 37 records · Page 2Linked to original sources
PubMed1985

Dyssegmental dysplasia (report of two cases with a review of the literature).

Two cases of dyssegmental dysplasia, a rare lethal skeletal dysplasia in the newborn, are reported. Two different forms of dyssegmental dysplasia can be distinguished--the lethal Silverman type and the less severe Rolland-Desbuquois type. In this report, both cases are of the Silverman type. Histopathology of chondro-osseous tissue confirms the similarity in pathologic findings to Kniest dysplasia.

Female↗
PubMed1984

[Giant parietal foramina. A surgical defect?].

Sinus pericranii is unusually demonstrated in the region of the obelion. The radiological findings are those of large parietal foramina and the overlying soft tissue is bulging, suggesting vascular collection. The possible relationship between ossification of parietal bone and vascular anomaly is discussed.

Bone Diseases, Developmental↗
PubMed1983

Acromesomelic dwarfism in a child with an interesting family history.

Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication.

Abnormalities, Multiple↗
PubMedDate not supplied

[Congenital valves of the ureter. Comments on 7 cases studied in childhood].

Ureteral valves are a rare cause of congenital obstructive uropathy in pediatric age. Symptoms onset is variable and depends directly on the degree of valvular obstruction. Seven cases of ureteral valves were studied in the Radiology Department of "Bambino Gesù" Pediatric Hospital in Rome; every type of technique available in the hospital was employed. For each case, the authors carefully describe the clinico-radiological approach which led to the diagnosis of obstruction due to the presence of one or more valvular structures (hydronephrosis). Intravenous urography proved to be the most sensitive examination to confirm the diagnosis of suspected obstruction made on the basis of US findings, and to assess its precise location. Segmental ascending pyelography was also employed, which consists in cystoscopically inserting a ureteral catheter into the renal pelvis, and then administering a contrast medium which allows the fluoroscopic visualization, both above and below the stricture, of the ureteral segments. The technique also allows the detection of other valves of the same ureter not otherwise recognizable. All 7 patients underwent surgery; follow-up at 12 months demonstrated clinical symptoms regression and a good functional and morphological recovery of the involved ureter.

Child↗