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Biomedical subjects

A Carnevale

Publications and source records attributed to A Carnevale.

At least 55 records · Page 3Linked to original sources
PubMed1987

Idiopathic multicentric osteolysis with facial anomalies and nephropathy.

Idiopathic osteolysis denotes a group of rare bone disorders differentiated on the basis of clinical, radiological, and genetic criteria. Idiopathic multicentric osteolysis (IMO) is one form of osteolysis that can occur as an autosomal dominant condition. In childhood, affected individuals have arthritic-like episodes, followed by progressive deformities, radiological osteolytic changes, and variable degrees of disability. A peculiar face and variable renal involvement have been described as associated manifestations. We report on a family with three members affected by IMO in two generations showing variable bone changes and persistent proteinuria. A sporadic case with severe renal damage is also described in which a de novo dominant mutation is suggested. All patients had peculiar facial manifestations including triangular shape, protruding eyes, and micrognathia. These manifestations may be part of the syndrome of IMO.

Arthritis↗
PubMed1987

Interstitial deletion of the long arm of chromosome 11.

A female patient with an interstitial deletion of the long arm of chromosome 11 is described. Her growth and psychomotor development were normal. She showed some facial dysmorphic features including cleft lip/palate, a probable cardiac defect and a triphalangeal thumb. A clinical correlation with similar cases is presented.

Abnormalities, Multiple↗
PubMed1985

The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City.

A survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: single gene disorders; chromosomal disorders; complex genetic etiology; unknown etiology, and nongenetic disorders. Of all admissions studied, 4.3% had a genetic disease (categories 1 and 2); 33.5% had a partly genetic condition (category 3); 13.8% had a disorder of unknown etiology; and 48.4% had an environmental disease. In terms of economic burden, patients with genetic or partly genetic disorders came more frequently from outside the city and had more and longer admissions with a higher number of surgeries. The results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families. The need to create genetic units in developing countries is emphasized.

Child, Preschool↗
PubMed1984

Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis.

A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.

Abnormalities, Multiple↗
PubMed1984

Interstitial deletion of long arm of chromosome 13.

The case is presented of a patient with the karyotype 46,XX,del(13q)(pter----q22::q32----qter) confirmed by densitometry and a phenotype of mental and growth deficiency, hypotonia, hypertelorism, ptosis, broad nasal bridge, protruding upper incisors, short neck, dislocation of the hip, hypoplasia of the thumbs, fusion of fourth and fifth metacarpal bones and syndactyly of toes. The findings are compared with those of well documented cases with a similar deleted segment of the long arm of chromosome 13. Although it seems obvious that a clinical syndrome for the distal deletion 13q appears to exist more studies with banded chromosomes are needed.

Abnormalities, Multiple↗
PubMed1983

Accidental death by gasoline ingestion. Case report and toxicological study.

A case of death following accidental ingestion of gasoline is described. Toxicological study, carried out by gas-liquid chromatography head space technique, permitted the identification and quantification of several hydrocarbons in all the viscera and biological fluids. The mechanism of death is discussed on the basis of the anatomopathological findings and quantitative toxicological results.

Accidents, Occupational↗
PubMed1983

Autosomal dominant craniometaphyseal dysplasia. Clinical variability.

The autosomal dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate long bone abnormalities; the father and the sister, who had mild cranial changes, showed the characteristic metaphyseal widening.

Adult↗