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Biomedical subjects

P Franceschini

Publications and source records attributed to P Franceschini.

At least 73 records · Page 4Linked to original sources
PubMed1982

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.

An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.

Adult↗
PubMed1981

[Lupus, insulin-resistant diabetes and acanthosis nigricans (author's transl)].

The authors report the case of a 22-year-old Guatemalan in whom lupus was diagnosed 8 months after a second pregnancy. The diagnosis of lupus met the criteria of the ARA: Raynaud's syndrome, alopecia, arthralgia, thrombophlebitis, facial erythema, antinuclear factor at 1/100, Farr at 75 p. 100 and immunofluorescent demonstration of IgM binding in healthy skin. Two months after the beginning of the lupus, there was onset of insulin-resistant ketosic diabetes without overweight. The serum insulin was 1.140 mu U/ml. Acanthosis nigricans was noted and confirmed by a biopsy. Insulin-resistance can be attributed to anti-membrane receptor antibodies titrating at 1/200 (R. Khan). The short-term progress of the disease was favorable on corticosteroid treatment. Insulin could be stopped, but high insulin serum levels persisted. This case meets criteria for type B as defined by Flier, Khan and Roth, and is the first European case of lupus with a complete presentation. Short-term progress was favorable, and there is no evidence to affirm that there will be a tardive progression towards hypoglycemia which is, however, possible due to the persistence of elevated serum insulin levels.

Acanthosis Nigricans↗
PubMed1980

[Rapidly progressing basal-cell naevi (author's transl)].

Basal-cell epitheliomas are of primary importance when discussing a case of multiple naevi. Two factors have to be considered to explain therapeutic failures: --Firstly, the very active local malignancy of these basal-cell epitheliomas; --Secondly, the long delay in applying drastic treatment such as wide excision and immediate repair, and the danger arising from divergent therapy because of lack of a common decision between the various specialists concerned: dermatologist, ophthalmologist, radiotherapist, and plastic or maxillofacial surgeon.

Adult↗
PubMed1979

Radiological features in trisomy 8.

Radiological study may prompt the correct diagnosis of Trisomy 8 mosaicism when the clinical features are mild and could be overlook. Skeletal features characteristic of Trisomy 8 are found in the skull, elbows, spine, pelvis, hands and feet.

Bone and Bones↗
PubMed1979

The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism.

A patient with 48XXXX/49XXXXX mosaicism is presented. Clinical findings include severe growth and developmental retardation, hypertelorism, mongoloid slant of the palpebral fissures, clinodactyly of the fifth fingers, retarded bone age and radio-ulnar synostosis. The findings are similar to those of the cases with a penta-X chromosome complement already described, and are also similar to the signs of the more common 49XXXXY syndrome of males. In both instances the dysmorphic features are less impressive than the mental retardation and the skeletal malformations. This report contributes to a better delineation of the 49XXXXX syndrome. The possible mechanisms of the chromosomal aberration are discussed.

Abnormalities, Multiple↗
PubMed1978

Trisomy-8 mosaicism: report of a case.

An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.

Child↗
PubMed1978

Recessive spondylocostal dysostosis: two new cases.

Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.

Adolescent↗
PubMed1977

Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome.

A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger. A supernumerary phalanx was inserted between the second metacarpal and the proximal phalanx of both index fingers with a radial deviation of the same phalanx. The same hand malformation has been previously described in three patients who had either the Pierre Robin syndrome or isolated cleft palate. On the basis of ours and the three previous cases, the existence of a new palato-digital syndrome is suggested.

Cleft Palate↗
PubMed1976

[Not Available].

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Cholera↗
PubMed1975

[Not Available].

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Anatomy↗
PubMed1975

A family with three sibs carrying trisomy 21.

A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.

Age Factors↗