Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

A five-generation family is here reported in which several members developed malignant melanoma, dysplastic naevi, astrocytoma in all grades, benign or malignant schwannoma, neurofibroma, or meningioma in a single instance. Significant cosegregation of skin and nervous tumours, preclusion of allelism to type 1 neurofibromatosis and phenotypic departure from known syndromes of hereditary proneness to cancer make one suggest an original familial predisposition to both malignant melanoma and central/peripheral nervous tumours.

[A multifunctional anesthesia device: the K circuit]. / Un appareil d'anesthésie polyvalent: le circuit K.

A practical versatile anaesthesia device is described. An electrical pump provides room air to carry anaesthetic vapours. O2 can also be added if desired. Energy is supplied either by built-in batteries (12 volts = autonomy 6 hours) or external electric mains (12-30 volts or 220 alternative volts). The optimal recommended anaesthetic circuit is the Modified D Mapleson Circuit for economy in oxygen and anaesthetic vapours (for an adult only 6 l are needed). A non-rebreathing circuit can also be used: so draw-over ventilation or the use of an auto-inflating bag are possible when no electric power is available. If mechanically controlled ventilation is necessary, a specific ventilator can be adapted. This apparatus has already been manufactured and is very practical on the battle field or in developing countries.

[Successful separation in 1974 of craniopagus twins united at the vertex. Indications, technics, follow-up after 14 years]. / Séparation réussie en 1974 de jumelles craniopages unies par le vertrex. Indications, techniques, évolution sur 14 ans.

On July 22, 1974, 55 days after delivery, the separation of female craniopagus twins united at the vertex was performed. This case was very similar to the case published by Voris in 1957 after separation in 1955. Surgery was decided because the neurological examination was normal in both twins, because there was no body malformation, because the angiogram as well as isotopic scintigraphy showed two normal brains, two superior sagittal sinuses and two torcular areas with a short venous union in the middle of the bone defect. In addition, Sophie and Sonia were suffering from respiratory disturbances due to their position. Surgery was easy (90 min) using the operative microscope; intubation and placing intravascular tubes for hemodynamic monitoring were difficult and lasted 4 hours. After all it took 14 years and 23 operations to complete the reconstructive surgery of the bone and skin. Cranioplasty was finally performed using vitallium plates. On their 14th birthday a neuropsychological investigation was performed with an IQ of 94 in Sophie and 76 in Sonia. Both girls are nubile and enjoy a normal school attendance.

[17p trisomy]. / La trisomie 17p.

Trisomy 17p resulting from a parental translocation t(10;17)(q26.3;p11) was observed in a 22-month-old boy. Analysis of five cases of trisomy 17p from the literature indicates a common malformation pattern: microcephaly, excessive development of the median part of the frontal region, mandibular hypoplasia, permanent opening of the mouth, a high-arched palate, a short, webbed neck, hypotonia, growth retardation, and severe mental retardation. Three abnormal features emphasized by the authors are permanent myosis due to a structural anomaly of the iris; an unusually low blood folate concentration; and an unusual hand configuration, the first four fingers flexed and the little finger extended.

[Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2 to 16qter due to malsegregation of a t(16;21) (q22.2;q22;2)pat]. / Augmentation d'activité de l'adénine phosphoribosyl transférase chez un enfant trisomique 16q22.2 à 16qter par translocation t(16;21) (q22.2;q22.2)pat.

Two cousins with trisomy for the distal third of 16q due to a familial translocation, t(16;21)(q22.2;q22.2), are reported. The APRT gene locus could be assigned to 16q22.2 to 16qter. The phenotypic similarities of the first patient, who had trisomy 16q22.3 to 16qter and monosomy 21q22.3, to six other patients with partial trisomy 16q reported in literature allows the delineation of a syndrome due to trisomy 16qter. In the second patient, with trisomy 16q22.3 to 16qter and trisomy 21pter to 21q22.2, similar features are present, but in association with the classical symptoms of trisomy 21.

[X chromosome fragility and effects of trimethoprim]. / Fragilité du chromosome X et effets de la triméthoprime.

Severe clinical regression was observed in a patient carrier of a fragile X after treatment trimethoprime. This prompted us to examine the effect of this antibiotic in lymphocyte cultures: a dose ranging from 13 mg/l to 53 mg/l increases considerably the frequency of the Xq27 gap in four fragile-X patients; a dose of 13 mg/l allows a normal growth, without appearance of the Xq27 gap, in 19 normal, non-carrier subjects; a dose of 82 mg/l totally inhibits cell division in 10 normal, non carrier subjects. The reversibility of the blockade was demonstrated, either by washing out the trimethoprime before the 50th hour of incubation or by adding 5-formyl-tetrahydrofolate (0.125 mg/l). It is concluded that one of the steps of monocarbon metabolism is inhibited by trimethoprime. This antibiotic, which must be avoided when treating patients carrier of the fragile X can be utilized in vitro for cytogenetic investigations.

[Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2 to 16qter due to malsegregation of a t(16;21) (q22.2;q22;2)pat (author's transl)]. / Augmentation d'activité de l'adénine phosphoribosyl transférase chez un enfant trisomique 16q22.2 to 16 qter par translocation t(16;21)(q22.2;q22.2)pat.

Two cousins with trisomy for the distal third of 16q due to a familial translocation, t(16;21)(q22.2;q22-2), are reported. The APRT gene locus could be assigned to 16q22.2 to 16qter. The phenotypic similarities of the first patient, who had trisomy 16q22.3 to 16qter and monosomy 21q22.3, to six other patients with partial trisomy 16q reported in literature allows the delineation of a syndrome due to trisomy 16qter. In the second patient, with trisomy 16q22.3 to 16qter and trisomy 21pter to 21q22.2 similar features are present but in association with the classical symptoms of trisomy 21.

[Larsen's syndrome. Clinical findings and inheritance (author's transl)]. / Le syndrome de Larsen. Aspects cliniques et génétiques.

Three new case reports of Larsen's syndrome (multiple congenital dislocations of the joints, distinctive facies and skeletal abnormalities) are presented. For the first time this condition is described to be associated with deafness and retinal dysplasia. Data in the literature show this syndrome to be inherited as sporadic, autosomal recessive or dominant. The 3 reported cases seem to have and autosomal recessive inheritance.

[45, X/47, XY, +13 mosaicism in a 19-year-old girl]. / Mosaique 45, X/47, XY, +13, chez une fille agée de 19 ans

The 45, X/47, XY, +13 mosaicism was observed in a 19-year-old mentally deficient girl who was examined because of primary amenorrhea. Certain clinical features were reminiscent of Turner's syndrome, while no features of trisomy 13 were present. The study of blood groups, HLA genotypes, and cytogenetic markers provided no evidence of chimerism.

[The r(22) syndrome, Apropos of 4 new cases]. / Le syndrome r (22). A propos de 4 nouvelles observations

Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.

[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity]. / Hypotonies neon-natales avec disproportion congenitale des differents types de fibre musculaire, et petitesse relative des fibres de type I Demonstration du caractere familial de cette nouvelle entite

Two sisters presenting with benign congenital hypotonia are reported. In both cases the muscle biopsies demonstrated the same pathological pattern, consisting in an abnormal size disproportion between the two main cytoenzymological types of muscle fibers. Their father, exhibiting a slight and diffuse muscle weakness, showed a closely related histological aspect. These three cases bring the first evidence of a familial transmission of this new entity. Its relationship with the other types of "congenital myopathies" is discussed.

[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)]. / Augmentation de l'activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14) (q12;p11)

A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.