[Chondrodysplasia punctata. Report of four cases in two sibships]. / La chondrodysplasie ponctuée. A propos de quatre observations en deux fratries.

Chondrodysplasia punctata has very diverse clinical and radiological features. Its diagnosis may be suggested as early as in the neonatal period in front of an abnormal facial appearance, sometimes associated with bone and vertebrae defects. Radiological exams will assert it. Its subsequent course depends on the accompanying visceral abnormalities. Genetics advice is closely related to these. Ultrasonography is the only actual possibility of prenatal diagnosis. However our attitude must be guided by the clinical course (of the disease) of the initial case in the sibship.

[What course should be adopted after the discovery of a gonosome anomaly in the fetal karyotype?]. / Quelle conduite adopter après la découverte d'une anomalie gonosomique du caryotype foetal?

An experience of three centers of genetic counselling (West France). The authors attempts to explain why in 9 cases the pregnancy was not terminated.

[Apropos of a familial case of adrenoleukodystrophy related to X chromosome diagnosed prenatally]. / A propos d'une observation familiale d'adrénoleucodystrophie liée à l'X avec réalisation d'un diagnostic anténatal.

The juvenile type of adrenoleukodystrophy is a X linked genetic disorder involving the central nervous system and the adrenal cortex. It is associated with an abnormal metabolism of saturated very long chain fatty acids. The basic defect remains unknown and there is presently no effective treatment. The authors report a familial observation which illustrates the efficacy of the techniques of identification of heterozygote females carriers and of prenatal diagnosis from trophoblast biopsy.

[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase]. / A propos d'un cas d'anémie hémolytique congénitale non sphérocytaire par déficit enzymatique en pyruvate-kinase.

About a familial observation of PK deficiency, the authors emphasize the important clinical and biochemical heterogeneity. Interest of isotopic explorations in the therapeutic decision of splenectomy.

[A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis]. / Un cas d'anémie hémolytique congénitale non sphérocytaire, par déficit en triose phosphate isomérase. Diagnostic prénatal.

Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.

[Anencephaly and diprosopy: 2 cases]. / Anencéphalie et diprosopie: deux cas.

We have seen two cases of diprosopy associated with anencephaly in Brittany between 1975 and 1984. Diprosopy is a partial or total duplication of the face. It consists of the phenomenon of late division in the embryo of the cephalic portion of the neural plate between the 16th and the 18th days. This gives rise to an incomplete type of monozygotic twinning or a conjoint twin. There are several different forms of the organs that are duplicated. We have seen a case of diprosopos distomos dirhinos diophthalmos and a case of disprosopos distomos dirhinos triophthalmos. These two cases were associated with anencephaly, the second also having a spina bifida and a diaphragmatic hernia. One can explain the incidence of anencephalies in cases of diprosopies by the desturbance created by the latter on the embryological events that succeed it. The delay in nerve formation makes it impossible for the neural tube to close completely, and this is why sometimes the anencephaly is associated with spina bifida. In more general terms one can postulate that all conjoint twins that are, of course, monozygotic and monochorial can interfere with early enbryological development and increase the risks of failure of the neural tube to close.

[Familial adrenoleukodystrophy]. / A propos d'une observation familiale d'adrenoleucodystrophie.

Adrenoleucodystrophy (ALD) is an X-linked hereditary disease concerning very long chain fatty acid (VLCFA) metabolism. It affects cerebral white matter and adrenal cortex. In the adult form, (adrenomyeloneuropathy) we also find hypogonadism. The enzymatic anomaly, yet unknown, takes place in the peroxisome. The illness is diagnosed by plasma VLCFA amount determination. We actually have no efficient treatment. Prenatal diagnosis is possible, using both biochemical assays and linkage analysis to a DNA probe.

[A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B]. / Etude d'un nouveau cas de monosomie partielle du chromosome 12,del(12)(p11.01----p12.109) confirmant la localisation du gène de la lactico-déshydrogénase B.

A new case of partial monosomy of the short arm of chromosome 12 is described in a 17-year-old girl and compared with other observations reported in the literature. The breakpoints were localized to region 12p11----12p.12.1. Qualitative and quantitative activity of LDHB allowed a precise assignment of the structural gene to sub-band 12p12.2.

[Infant encephalopathies with rapid EEG rhythms. Apropos of 2 cases]. / Encéphalopathies du nourrisson avec rythmes rapides à l'EEG. A propos de deux cas.

The authors report two cases of infant encephalopathies with psychomotor retardation. The cerebrospinal fluid, the electroretinogram, the electromyogram and the motor conduction velocity are normal. The neuromuscular cutaneous conjunctival biopsies are normal. No biochemical abnormalities are found. The electroencephalogram presents continuous high voltage fast rhythms (250-400 microV) with reduced or absent evoked responses. Early infantile neuroaxonal dystrophy and lissencephaly are suggested.

[Clinical evolution and cytogenetic study of two acute lymphoblastic leukemia (type L2) in the child: prognostic value of the karyotype]. / Evolution clinique et étude cytogénétique de deux leucémies aiguës lymphoblastiques (LAL de type L2) chez l'enfant: intéret pronostique du caryotype.

Cases of two newborns with acute lymphoblastic leukemia (ALL) L2 type, are reported. In each case, some chromosomal abnormalities can be found. In the first case, a translocation t (4;11) is noticed. It has to be compared with already published patients' cases and so the non randomly occuring character of those alterations in ALL and poor pronostic factor can be confirmed. In the second observation, a complex translocation t (5;6;X) never described before in literature, was observed. Chromosomal findings in ALL are not only a help to diagnosis but, by cytogenetic data, are also a help to accurate prognosis and adequate treatment.

[Association of trisomy 21 and gonosomal trisomy. Apropos of 2 cases]. / Association de trisomie 21 et de trisomie gonosomique. A propos de deux observations.

The existence of double autosomal trisomy is exceptional in a newborn child: --Down syndrome and trisomy 18. --Down syndrome and trisomy 13. On the other hand, the association of an autosomal trisomy, generally Down syndrome with gonosomal trisomy, is less rare with an extra X (triplo X, Klinefelter) or an extra Y. The association of Down syndrome with Turner XO syndrome (autosomal gonosomal association) doesn't insert in the subject, and has been described only once in the literature.

[Polydactyly]. / La polydactylie.

The authors propose an original classification of the polydactyly. They opposed: polydactyly "symptom" and polydactyly "disease". Discussion about five personal pedigrees.

[Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome]. / Polydactylie post-axiale chez un nouveau-né de sexe féminin, associée à un hydrocolpos par atrésie vaginale et à une cardiopathie congenitale: syndrome de McKusick-Kaufman.

The existence in a new-born child of post-axial polydactyly, associated with an abdominal tumor due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the McKusick-Kaufman syndrome. This syndrome must be differentiated from the Ellis-Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with a "chondrodysplasis" and an "ectodermodysplasia".

[XXXXY syndrome]. / Le syndrome 49 XXXXY.

A child with the 49 XXXXY syndrome is presented. Diagnosis was possible early in life, because of craniofacial anomalies and congenital cardiac malformations. The main symptoms are growth retardation, craniofacial abnormalities, hypogonadism, frequent bone lesions and severe mental retardation.

[McKusick-Kaufman syndrome in a new born girl (author's transl)]. / Syndrome de McKusick-Kaufman, chez un nouveau-né de sexe féminin.

In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.