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C Piussan

Publications and source records attributed to C Piussan.

At least 37 records · Page 2Linked to original sources
PubMed1993

A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation.

We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous reports of Robin sequence or cleft palate, short stature and vertebral dysostosis.

Abnormalities, Multiple↗
PubMed1993

[Neisseria mucosa endocarditis complicated by intracerebral aneurysm].

BACKGROUND: Serious complications, such as emboli and mycotic aneurysms, are still frequent in documented cases of infective endocarditis. Infecting organisms other than Streptococcus viridans and Staphylococcus are becoming more common. CASE REPORT: A 8 year-old girl was admitted because of a sudden pain in the right calf followed by complete disability. She had low-grade fever and presented with a moderate heart murmur with no sign of congestive heart failure, a severe pain at palpation of her calf with no Homans sign; she had many dental caries. Laboratory data indicated leukocytosis with increased percentage of polymorphonuclear cells and increased sedimentation rate. Ultrasonography of the calf showed laceration of the muscle with blood suffusion. Echocardiography showed vegetations involving the mitral valve. Intravenous antibiotic therapy with penicillin G and netilmicin was instituted, but mitral insufficiency appeared 7 days later while the fever persisted. At that time, the brain CT scan showed ischemic lesions, while angiography showed several mycotic aneurysms. Neisseria mucosa was recovered from the 5 initial blood cultures 16 days after the onset, and penicillin G was replaced by ampicillin. A second vegetation involving the aortic valve was seen a few days later, and a recent arterial embolism to the right leg was suspected because fever and pain reappeared. The brain ischemic lesions gradually disappeared and a second angiography performed 3 months after the first showed that all but one large mycotic aneurysm had disappeared; this last aneurysm was excised. Four years later, the child is in good health without any neurological sequelae but having mitral insufficiency. CONCLUSION: This girl presented with classical complication of infective endocarditis due to Neisseria mucosa, a saprophytic organism of the oral cavity. This is the second report of such an infection in children.

Ampicillin↗
PubMed1993

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we report on the genetic mapping of the Juberg-Marsidi gene to the proximal long arm of the X chromosome (Xq12-q21) by linkage to probe pRX214H1 at the DXS441 locus (Z = 3.24 at theta = .00). Multipoint linkage analysis placed the Juberg-Marsidi gene within the interval defined by the DXS159 and the DXYS1X loci in the Xq12-q21 region. These data provide evidence for the genetic distinction between Juberg-Marsidi syndrome and several other X-linked mental retardation syndromes that have hypogonadism and hypogenitalism and that previously. Finally, the mapping of the Juberg-Marsidi gene is of potential interest for reliable genetic counseling of at-risk women.

Abnormalities, Multiple↗
PubMed1992

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a localization for the CLS locus in Xp22.1-p22.2, with the most likely position between the marker loci DXS41 and DXS43. We have now extended the study to 16 families by using seven RFLP marker loci spanning the Xp22.1-p22.2 region. Linkage has been established with five markers from this part of the X chromosome: DXS274 (lod score [Z] (theta) = 3.53 at theta = .08), DXS43 (Z(theta) = 3.16 at theta = .08), DXS197 (Z(theta) = 3.03 at theta = .05), DXS41 (Z(theta) = 2.89 at theta = .08), and DXS207 (Z(theta) = 2.73 at theta = .13). A multipoint linkage analysis further placed, with a maximum multipoint Z of 7.30, the mutation-causing CLS within a 7-cM interval defined by the cluster of tightly linked markers (DXS207-DXS43-DXS197) on the distal side and by DXS274 on the proximal side. Thus, these further linkage data confirm and refine the map location for the gene responsible for CLS in Xp22.1-p22.2. As no linkage heterogeneity was detected, this validates the use of the Xp22.1-p22.2 markers for carrier detection and prenatal diagnosis in CLS families.

Abnormalities, Multiple↗
PubMed1991

Statistical approaches for the detection of heterozygotes for biotinidase deficiency.

We applied and evaluated 3 statistical approaches for the detection of heterozygotes for biotinidase deficiency in a randomly selected population of French adults. The first method, which used a cutoff value to dichotomize the population, lacked sensitivity. The second approach calculated the probability of heterozygosity for a given enzyme activity through the application of Bayes theorem to the normal density functions of the enzyme distributions of the obligate heterozygote and the test populations. A priori values of the means and standard deviations (SDs) of the genotypic distributions were used. This method was sufficiently sensitive for both population screening and genetic counseling, but requires prior knowledge of the frequency of the deficient gene (q). The third approach was similar to the second, however, maximum likelihood estimates of the means and SDs of the genotypic distributions were calculated and used to determine the probability of heterozygosity for a given enzyme activity. This method was as sensitive as the second method and is appropriate for screening populations for which there is little prior information about the gene frequency and the genotypic distributions. This method can also be used to estimate the gene frequency of the disorder within a given ethnic or racial population. Using this method, we estimated the frequency of heterozygotes (2pq) in the French population to be 0.012, which was similar to that estimated from the results of neonatal screening for biotinidase deficiency. These methods can be used to detect heterozygotes and to estimate the gene frequency of other inherited enzyme deficiencies.

Amidohydrolases↗
PubMed1991

Trichomegaly, pigmentary degeneration of the retina and growth disturbances. A probable autosomal recessive disorder.

Two brothers are described with trichomegaly, early pigmentary degeneration of the retina, growth retardation, anterior pituitary deficiencies and peripheral neuropathy. This syndrome, initially reported in a boy by Olivers and Mac Farlane in 1965 (6), and thereafter in six sporadic cases of both sexes, is not associated with a recognizable chromosomal defect. The present report of two brothers of healthy parents with negative familial history suggests an autosomal recessive mode of inheritance of this entity.

Adult↗
PubMed1991

[Dubowitz syndrome. A diagnosis not to be missed].

Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, mental retardation and poor feeding. Because of the eczema which was present in half of the cases after 4 years of age, it cannot be mistaken for the more frequent fetal alcohol syndrome. We report 5 cases, among whom two sibs, confirming the recessive autosomal mode of inheritance and the necessity for genetic counseling.

Abnormalities, Multiple↗
PubMed1991

[Apert's syndrome with polymetatarsia].

Three cases of acrocephalosyndactyly with duplication of the first toe and presence of six well-individualized metatarsals are reported. This type of polysyndactyly should suggest the diagnosis of Carpenter syndrome, which is inherited on a recessive autosomal basis. However, in the three patients reported here, the facial dysmorphism was distinct from that seen in Carpenter syndrome and the syndactyly was more marked. The correct diagnosis therefore seems to be Apert acrocephalosyndactyly, a disease with dominant transmission. A mutation seems very likely and consequently the risk of recurrence in siblings is probably minimal.

Acrocephalosyndactylia↗
PubMed1990

[Waardenburg's syndrome and severe cyanotic cardiopathy].

Waardenburg syndrome type I is transmitted as an autosomal dominant trait. The main features are dystopia canthorum, partial pigmentary disorder and perceptive deafness. Osteo-articular and intestinal malformations may be observed. In an affected family, the unusual combination of Waardenburg syndrome and severe congenital heart disease has been observed in a child.

Child, Preschool↗
PubMed1990

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Anhidrotic ectodermal dysplasia is an X-linked inherited skin disorder; only affected males exhibit the complete syndrome, whereas females may have a few mild features. The gene involved in this disease is located in the proximal area of the long arm of the X chromosome, in the q13 position. Molecular analysis is very helpful for calculating the risk of transmission in sisters with normal phenotypes and affected individuals (family 1 provides an example), but cannot solve all problems (example of family 4). The best results are obtained when there are two informative markers, each located on either side of and very close to the mutant gene. Molecular analysis can also be applied to chorionic villi sampled at the tenth week of gestation in order to achieve antenatal diagnosis in male fetuses in high risk families. Until recently, antenatal diagnosis could be performed only at the twentieth week of gestation by the demonstration of inadequate development of skin glands in skin biopsy specimens sampled under fetoscopy. Family 2 provides an example of antenatal diagnosis and highlights the risk of error that always exists in molecular analysis studies.

Ectodermal Dysplasia↗
PubMed1990

[Adrenoleukodystrophy: significance for genetic counseling of the determination of very long-chain fatty acids and of molecular biology].

Juvenile adrenoleukodystrophy (ADL) is a peroxisomal, X-linked, consistently fatal condition for which no treatment is currently available. Detection of heterozygote females and antenatal diagnosis by determination of very long chain fatty acid levels are therefore mandatory. We report the case of a family with two affected first cousins but six unaffected maternal uncles. Plasma levels confirmed the usual X-linked pattern with transmission by the grandmother and ruled out the hypothesis of delayed adrenomyeloleukodystrophy in the grandfather with heterozygosis of all the daughters. Although all six sons are unaffected, two certainly heterozygote females have normal plasma very long chain fatty acid levels. Heterozygosis in these women was confirmed by family restriction fragment length polymorphism studies (TAQ1) using the St 14 probe whose reliability for the diagnosis of heterozygotes with normal plasma very long chain fatty acid levels has previously been documented.

Adrenoleukodystrophy↗
PubMed1989

[African trypanosomiasis in children treated with eflornithine. A case].

We report the case of a 14-year old African girl presenting with late-stage African T. gambiense trypanosomiasis. She was treated with eflornithine, an ornithine decarboxylase inhibitor which is a key enzyme in the biosynthesis of polyamine. Polyamines are essential to the multiplication of trypanosomes. Two treatment courses were necessary to achieve an apparent cure after one year; however, a longer follow up will be required to confirm whether or not the cure is permanent. Determination of drug concentrations in plasma and cerebrospinal fluid was performed during the second treatment course. Side-effects were easily controlled.

Adolescent↗
PubMed1989

[Acute generalized exanthematous pustulosis].

The authors report the case of a young patient who developed an eruption resembling an acute generalized pustular dermatitis after amoxicillin therapy for a tonsillitis. The nosological distinctions between this clinical entity and pustular psoriasis are discussed.

Adolescent↗