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M L Briard

Publications and source records attributed to M L Briard.

At least 55 records · Page 3Linked to original sources
PubMed1991

[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease].

Two unrelated patients with Hirschsprung disease and very short stature since birth are reported. Attention is drawn to the early roentgenographic signs of recessive McKusick metaphyseal chondrodysplasia syndrome or cartilage-hair hypoplasia syndrome. Some, but not all, patients with this chondrodysplasia exhibit anomalies of the hair, neutropenia and immune deficiency. Presence of congenital megacolon is apparently not exceptional. Nosologic limits are discussed.

Enchondromatosis↗
PubMed1990

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.

Usher syndrome is an autosomal recessive disease associating congenital sensorineural deafness and retinitis pigmentosa. Two clinical forms have been recognized, namely a) congenital and severe (type I) and b) later and moderate (type II). A linkage of the D1S81 probe (THH 33) with the gene for type II has been recently demonstrated by Kimberling et al. 1990. Here, a panel of 29 individuals from 6 kindreds with Usher syndrome type I has been tested for possible allelism at the D1S81 locus. A negative lod-score was found with this probe and close linkage to this region could be excluded. These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.

Blotting, Southern↗
PubMed1990

[A new strategy of neonatal screening for cystic fibrosis. The association of immunoreactive trypsin and molecular biology in dried blood].

Cystic fibrosis (CF) screening by means of immunoreactive trypsin (IRT) lacks specificity: only 1 out of 12 hypertrypsinemic neonates has cystic fibrosis. We propose here to analyse the KM.19 polymorphic site in the dried blood spots as an additional test in hypertrypsinemic neonates. A blind retrospective study of 114 hypertrypsinemic samples has been performed after polymerase chain reaction. Twenty-seven of 37 CF (74%) were homozygous for allele 2 (2-2) and could have been diagnosed on the 15th day of life. Fifty-five percent of the infants tested were homozygous for allele 1 (1-1), a very rare feature in CF, conferring them a probability of being normal of 99.8%. At the moment, this test could be of great help in the CF screening, even better than the search for the delta F508 mutation for which 45.9% of CF patients are homozygous.

Cystic Fibrosis↗
PubMed1989

Acrofacial dysostoses.

A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs. Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal joint. She also has downward-slanting palpebral fissures, malar hypoplasia, and deepset eyes. This observation offers an opportunity to revisit the acrofacial dysostoses syndromes, including Nager-Reynier syndrome, Genée-Wiedeman syndrome, and lethal forms.

Abnormalities, Multiple↗
PubMed1989

BBBG syndrome or Opitz syndrome: new family.

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.

Abnormalities, Multiple↗
PubMed1988

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.

Abnormalities, Multiple↗
PubMed1988

Interest of biology in the management of pregnancies where a fetal malformation has been detected by ultrasonography.

The results of two French collaborative studies are reported with respect to chromosomal and biochemical analyses following the ultrasonographic detection of a fetal anomaly. Overall, chromosomal anomalies were observed in 14.8%, ranging from 8.6% in isolated single malformations to 40.5% in multiple fetal malformations associated with intrauterine growth retardation. Acetylcholinesterase (AChE) electrophoresis was performed on the amniotic fluid of 64 cases of ultrasonographically diagnosed isolated hydrocephalus. 8 cases of previously unsuspected open neural tube defects were diagnosed by AChE. Digestive microvillar enzyme assays were useful in the precise diagnosis of suspected gastrointestinal anomaly. The correlation of the results of ultrasonography and chromosomal and biochemical analyses is the basis for the diagnosis and the prognosis of pregnancy.

Amniocentesis↗
PubMed1988

[Genetic counseling in neurofibromatosis. Apropos of a study of 53 families].

Referring to a retrospective study of 53 families affected with neurofibromatosis and seen in genetic consultation from January 1977 to September 1987, the authors emphasize the difficulties of genetic counselling in this disease due to its variable expressivity with unforeseeable natural evolution and to the difficulty in detecting minor forms without biological markers. These results confirm previous studies (Carey 1979, Riccardi 1981): About half the cases are relevant to a neomutation and in these sporadic cases, the average paternal age is significantly increased (36.7 years). In familial cases, an intrafamilial variable expressivity is noted in 63.3% of families and no maternal effect is found. The penetrance of the disease, calculated from the familial cases, is estimated to 97% which confirmed the anterior data. The severe forms rate (grades III and IV) is about the same for familial cases, than in previous publications, but is higher for sporadic cases than the proportion described by Riccardi (25 to 30%) probably because of an ascertainment bias. Finally, If the risk for the offspring of an affected patient can be estimated at 1/2, however it is impossible to predict the severity of the disease. Before concluding to a neomutation (1st child of a couple) or to an absence of genetic risk (non affected person related to a familial case), a minor form must be searched by a careful physical examination, although the recent localization of the gene allows us to think of molecular biology for familial studies in a near future.

Female↗
PubMed1988

Ophthalmo-acromelic syndrome.

We report two sibships with children who had anophthalmia, multiple limb abnormalities, and consanguineous parents. The same association of malformations has already been reported. These further observations allow a better delineation of the syndrome and confirm its autosomal recessive mode of inheritance. We propose to name the syndrome ophthalmo-acromelic.

Abnormalities, Multiple↗