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Biomedical subjects

R Mantero

Publications and source records attributed to R Mantero.

At least 19 recordsLinked to original sources
PubMed1995

F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family.

We report on a father and daughter in the second known family affected with F-syndrome. The first family, with 8 affected members, was reported by Grosse et al. [1969: BD:OAS V (3):48-63]. F-syndrome, an autosomal-dominant trait, is mainly characterized by acral defects that may also involve the sternum and the lumbosacral spine. Synostoses between capitate and hamate, and between talus and navicular, are invariably present; other carpal and tarsal bones are sometimes incorporated into the fusion. The hand malformation is principally a malformation of the first 2 rays. In our patients, the short and malformed thumb was webbed with the index finger, which was radially deviated with duplication of the middle and distal phalanges. In the feet, polydactyly and severe metatarsal and toe anomalies were present. The father had a prominent sternum with pectus excavatum, whereas the daughter had no sternal deformity. Both of them had a mild failure of fusion of posterior arch L5 and/or S1.

Abnormalities, Multiple↗
PubMed1995

Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.

We describe a new family with synpolydactyly (syndactyly type II) with 8 affected members in 4 generations. Aplasia/hypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskeletal malformations were present.

Adult↗
PubMed1994

Pitfalls of genetic counselling in brachydactyly type C.

A familial case of brachydactyly type C is presented in which hand radiographs of the proposita's parents was considered normal. The metacarpophalangeal profile pattern of the mother's hands demonstrated minimal manifestations typical of brachydactyly type C.

Adult↗
PubMed1994

[Oculodentodigital dysplasia: report of 2 familial cases].

We describe a father and his child with bilateral syndactyly of fingers IV and V and with pinched nose, hypoplastic alae nasi and thin anteverted nares. The patients also showed a small nodule on the tongue tip. Both had no ocular or dental anomalies. The clinical features of our patients resemble those of the patients described by Brueton et al. The hypothesis that the oculodentodigital dysplasia may belong to a contiguous gene spectrum could be confirmed.

Abnormalities, Multiple↗
PubMed1985

[Echographic study of the embryonal and fetal hand].

The morphological aspects of the limbs as well as several details in the forearm and in the hand were observed from the seventh week of gestation on by routine sonographic examination of the embryo and the fetus. This examination was performed once a week beginning in the first months of life. The authors emphasize the value of sonography in the detection of fetal and embryonic malformations of the upper limb. The method has its limits however and remains to be perfected but it has already proved to be efficient for future studies, essentially because of its innocuousness. The images obtained between the 9th and 33d weeks of gestation are presented.

Embryo, Mammalian↗
PubMed1984

[Digital videoangiography of the hand].

We have been using digital subtraction angiography for a year. The advantages as compared with customary angiography are pointed out. Some examples are used to illustrate its use.

Acrocephalosyndactylia↗
PubMed1983

[Syndactyly: an angiographic study].

Systematic angiographic examination (87 angiographies) done in all the congenital malformations of the hand and in particular in cases of syndactyly in patients 6-11 years of age, has given the authors the opportunity to observe anomalies of the vascular topography of the hand (distal displacement of the bifurcation of the common digital arteries, anomalies of excess or lack of arteries of the palm: common digital arteries, proper digital arteries, etc.) and of performing surgery carefully according to the angiographic appearance of the malformation.

Acrocephalosyndactylia↗
PubMed1983

Arteriographic findings in congenital malformations of the hand.

The authors show their routine technique for arteriographic examination in patients with congenital malformations. They demonstrate angiograms taken in the more common congenital deformities of the hand. Vascular anomalies are nearly always found. Most commonly the progressively more distal artery is seen with the development of a single arterial system in the more advanced deformities. The authors suggest that anomalies in the development of the vascular tree may in fact prove to be the determining factor in congenital anomalies, since the differentiation of the vascular tree appears very early in embryonic life.

Angiography↗
PubMed1982

[About three cases of median nerve compression inside the carpal tunnel (author's transl)].

The authors report about three cases of median nerve compression inside the carpal tunnel; they were caused by tendons or anomalous muscular bellies of the Palmaris Longus. The first two cases consider the anomalies of the distal insertion of the muscle, the third a volume anomaly; the first two findings allow to recall the hypothesis of a common philogenetic origin of the palmar aponeurosis and the Palmaris Longus.

Carpal Tunnel Syndrome↗
PubMed1982

[Kirner's disease: surgical treatment].

Kirner's deformity is a rare meta-diaphysal dysplasia of the third phalanx of the fifth finger. It is usually congenital and bilateral. Its pathogenesis is not clearly understood. Very few authors have considered using a surgical treatment for this condition. The authors present a case of Kirner's deformity treated with Bonola's technique. In one finger a triangular diaphysal resection was performed. This was followed by a centromedullary pinning On the other finger an extra-osseous pin was used. The long-term results were satisfactory in both fingers. There was no difference related to the different fixation techniques.

Fingers↗
PubMed1977

[2 cases of isolated traumatic rupture of the pancreas].

The clinical progression and treatment of two cases of isolated rupture of the pancreas are described. This lesion is rare and of unusual aetiology. Its symptomatology is often modest. Considerable surgical and medical treatment required.

Abdominal Injuries↗