Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive...
Lorente, C, Cordier, S, Goujard, J, Aymé, S, Bianchi, F, Calzolari, E, ...
OBJECTIVES: This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts. METHODS: Data were derived from a European...
Protocols to establish genotype-phenotype correlations in Down syndrome.
Epstein, C J, Korenberg, J R, Annerén, G, Antonarakis, S E, Aymé, S, Courchesne, E, ...
Aymé, S, Mercier, P, Dallest, R, Mattei, J F
As the HLA system could play a role in the in utero selection process against abnormal fetuses, HLA-A and -B antigens were evidenced in 30 children with trisomy 21 and in their parents, using a...
Lorente, C, Cordier, S, Goujard, J, Aymé, S, Bianchi, F, Calzolari, E, ...
OBJECTIVES: This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts. METHODS: Data were derived from a European...
Protocols to establish genotype-phenotype correlations in Down syndrome.
Epstein, C J, Korenberg, J R, Annerén, G, Antonarakis, S E, Aymé, S, Courchesne, E, ...
Aymé, S, Mercier, P, Dallest, R, Mattei, J F
As the HLA system could play a role in the in utero selection process against abnormal fetuses, HLA-A and -B antigens were evidenced in 30 children with trisomy 21 and in their parents, using a...
Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.
Aymé, S, Pelissier, J F, Garnier, J M, Mattei, J F, Giraud, F
We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first...
Cerebrofaciothoracic dysplasia: a new family.
Philip, N, Guala, A, Moncla, A, Monlouis, M, Aymé, S, Giraud, F
We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental...
Phenotype-genotype correlations in X linked retinitis pigmentosa.
Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, ...
Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical...
Verloes, A, Aymé, S, Gambarelli, D, Gonzales, M, Le Merrer, M, Mulliez, N, ...
A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated...
Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft...
The Marshall and Stickler syndromes: objective rejection of lumping.
To answer the question of whether nosological splitting of the Marshall and Stickler syndromes is justified at the phenotypic level, we surveyed published reports on the two syndromes and applied an...
Attitudes towards Down's syndrome: follow up of a cohort of 280 cases.
Julian-Reynier, C, Aurran, Y, Dumaret, A, Maron, A, Chabal, F, Giraud, F, ...
A follow up study of a cohort of 280 Down's syndrome (DS) fetuses was initiated in order to estimate the percentage of terminations of pregnancy, the prevalence at birth, the survival of DS children,...
Julian-Reynier, C, Philip, N, Scheiner, C, Aurran, Y, Chabal, F, Maron, A, ...
STUDY OBJECTIVE--The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the...