Radial club hand and Holt-Oram syndrome.

The authors describe the case of a young African girl born with a radial club hand associated with a pedicled floating thumb, no other orthopaedic malformation was detected. A ventricular septal defect necessitated surgery in emergency. In front of such malformative association, the Holt-Oram syndrome has been evoked. The aim of this study has been to review the etiology and classification of this rather rare malformative association, as well as to describe the therapeutic attitudes and surgical techniques proposed by various authors towards the radial club hand (1, 3, 5, 6, 7, 12).

[Cutis marmorata telangiectatica congenita. Apropos of 4 new cases]. / Cutis marmorata telangiectatica congenita. A propos de quatre nouveaux cas.

Cutis Marmorata Phlebectasica is a rare congenital disorder characterized by persistent erythrocyanotic mottled areas associated with superficial phlebectases with cutaneous atrophy and ulcerations. The anomaly is present at birth. Spontaneous improvement is the rule. Four cases are described with vascular investigations, coloured echo-Doppler and phlebography. The deep venous tracts are shown to be dilated. Reflux is shown to the superficial veins.

[Hemisynthesis of antineoplastic conjugates with nitrogen-mustard proteins]. / Hémisynthèse de conjugués oncostatiques du type moutardes azotées-protéines.

The synthesis of new conjugates with inhibitory action on tumour growth is investigated by linking amino functions of proteins compounds (lysozyme and alpha s-casein) through an amide linkage at the carboxylic function of nitrogen mustards (chlorambucil and melphalan). The polychlorambucil amides of lysozyme and alpha s-casein derivatives prepared showed experimental antitumour activity when these conjugates were screened against the experimental P388 leukemia. In the case of the conjugates lysozyme-melphalan, an antitumour activity is observed when the amino function of the drug is combined with the carboxylic functions of the protein contrary to the situation of the free amino function of the drug described into the literature.

Long-term follow up of a case of severe congenital chloride diarrhoea.

A patient with congenital chloride diarrhoea (CCD) is reported. The diagnosis on the 5th day of life was based on the watery stools with characteristic ionic composition. The neonate presented with abdominal distension necessitating laparotomy on day 1, followed by transverse colostomy on day 3, owing to persistent abdominal swelling. Total parenteral nutrition (from 1 to 3 months) followed by an enteral semi-elemental diet (from 3 to 5 months) was required to reduce the quantity of stools and to obtain a satisfactory nutritional state. The colostomy was closed at 16 months. Growth, psychomotor development and renal function are normal at 6 years. Criteria for therapeutic evaluation are discussed.

[Isotope lymphography and its therapeutic implications]. / La lymphographie isotopique et ses implications thérapeutiques.

Radiological lymphography presents drawbacks among which the risk of aggravation of the edema is most prominent. The authors report their experience with isotopic lymphography which best reproduces the physiological conditions of lymphatic drainage; it provides informations on the dermal or canalicular drainage route, the possible peripheral stasis or lymph leakage.

Melanotic neuroectodermal tumor of infancy with high serum levels of alpha-fetoprotein. Ultrastructural study and immunological evidence of glial fibrillary protein and alpha-fetoprotein.

We report an infant melanotic neuroectodermal tumor in the anterior part of the upper gingiva, which was associated with high urinary excretion of vanilmandelic acid. Serum levels of alpha-fetoprotein were abnormally high (200 ng/ml). They returned to normal after removal of the tumor (10 ng/ml). The tumor was characterized histologically and ultrastructurally by the presence of melanocytic and astrocytic cells containing glial fibrillary protein. Intracellular alpha-fetoprotein was demonstrated by the immunoperoxidase method (PAP) in scattered foci of interstitial cells.

[Bochdalek's congenital diaphragmatic hernia: a clinical review of 114 cases]. / La hernie diaphragmatique congénitale de Bochdalek: revue clinique de 114 cas.

During a retrospective multicentric study of the encountered congenital pathology of the diaphragmatic domes, we focused our special attention on the prevalence of the congenital Bochdalek hernia. 140 charts were statistically analysed. The seriousness of the medical and surgical emergency situation enticed the authors to examine the most important prognostic clinical features. The interval between diagnosis and surgical therapy should be as short as possible. Respiratory acidosis and resuscitation were a common denomination in all infants who succumbed in the post-operative period. The early occurrence (less than 6 hrs) of respiratory distress disclosed the seriousness of the associated pulmonary hypoplasia. Surgical technical problems were rare. This in contrast to the struggle against pulmonary arterial and capillary hypertension. Pulmonary vasodilator drugs have not convinced those who initiated their use.

Ovarian torsion cyst presenting as a wandering tumor in a newborn: antenatal diagnosis and post natal assessment.

A case of an in-utero torsion ovarian cyst is reported. The diagnosis was made antenatally and the 4-cm cystic mass was followed by US from birth until the age of 3 months. Surgery was delayed until the baby reached a satisfactory weight. In the meanwhile, the follow-up studies showed the mass to wander in the abdomen. Surgery revealed an ovarian cyst. Ovarian torsion cysts should be considered in the differential diagnosis of wandering tumors.

[Vascular disorders in irritable hip disclosed by dynamic scintigraphy with radioactive colloids]. / Les perturbations vasculaires dans la hanche irritable révélées par la scintigraphie dynamique aux colloïdes radioactifs.

The aim of this survey was to determine the vascular disturbances occurring during transient synovitis (observation hip, "hanche irritable"). Within these last two years thirty children were admitted with painful hip, limp and restriction of the passive motion in the hip joint. Legg-Calve-Perthes disease was excluded by roentgenographic analysis and bone scintigraphy. Osteoblastosis was studied by using 99mTc methyl-diphosphonate. Another tracer was necessary to investigate the blood supply into the affected femoral head : 99mTc marked colloids were injected. Immediately after the intravenous administration of the isotope comparative activity was recorded every ten seconds. Computerized information allowed the description of four different stages, i.e. arterial supply, filling peak, venous elimination and later recirculation. Nineteen (63%) affected children presented a decrease in isotopic activity during the first two stages. The proposed interpretation consists in a selective decrease in blood supply in the femoral head. Venous circulation was rarely disturbed. Treatment consisted in bedrest with skin traction. In this series, no aspiration of the joint was performed. Eight days after admission dynamic scintigraphy with marked colloids revealed a highly significant decreased asymmetry between the two femoral heads. Only seven patients (23%) presented arterial hypoperfusion. Fifteen days later only three cases remained abnormal. Two of them presented some weeks after the regression of the symptoms an asymmetrical bone scintigraphy and secondarily the roentgenographic features of Legg-Calve-Perthes disease. Radioactive colloids seem to be useful to diagnose transient synovitis and to determine the prognosis. Although its etiology is still unknown, transient synovitis seems to be characterized by vascular disturbances consisting in a decrease in blood supply in the affected femoral head. Persistence or recurrence of abnormal colloid scintigraphy is indicative of a poor prognosis.

Silver staining of the supernumerary chromosome in the cat-eye syndrome.

A case of the Cat-eye syndrome (CES) with 47,YX, + mar is presented. Silver staining method revealed the marker chromosome to be bisatellited. This abnormal chromosome is interpreted as the product of a Robertsonian translocation between the short arm and satellites of chromosome 22 and short arm of another D-group chromosome, probably No. 13.

[Physiopathology of lymphedema (author's transl)]. / La physiopathologie du lymphoedème.

On the vast and still unclear problem of lymphedema, the author stresses the major role played by the permeability of the blood vessel wall to proteins, with accumulation of these in the interstitial space. The walls of capillaries are not semi-permeable. There is a passage of proteins even under normal conditions. Increased during inflammatory process, it determines the accumulation of protein molecules in the interstitial space. The increased passage of protein into the interstitial space during a temporary process is often the causative factor in lymphedema. All situations which interfere with the drainage of these substances by the lymphatic system maintains the edema and leads to a passage to chronicity.