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J Jalaguier

Publications and source records attributed to J Jalaguier.

10 recordsLinked to original sources
PubMed1989

[Congenital mesoblastic nephroma (Bolande's tumor). Prenatal diagnosis].

The authors report a new case of the antenatal ultrasound diagnosis of a congenital mesoblastic nephroma (also called Bolande's tumor) at 33 weeks of amenorrhea. This tumor was found to be associated with acute hydramnios involving premature labor and fetal death by respiratory embarrassment. Congenital mesoblastic nephroma is a very rare entity but is the predominant renal neoplasm in the immediate neonate period. The differential diagnosis between Bolande's tumor and nephroblastoma (Wilm's tumor) is now clear since histopathological features have been precisely described by Bolande. Clinical and pathological features of the renal disease are discussed. The prognosis is excellent for most cases requiring only surgical treatment (nephrectomy).

Acute Disease↗
PubMed1989

[Conradi-H:unermann chondrodysplasia punctata and fetal alcoholism].

Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome, alcohol is also the cause of numerous fetal malformations. A case of Conradi-Hünermann type chondrodysplasia punctata is reported. Maternal alcohol ingestion was reported during gestation.

Abnormalities, Multiple↗
PubMed1989

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

We report a case of mental retardation associated with multiple congenital anomalies suggesting an F.G. syndrome. We discuss problems concerning genetic counselling and the management of future pregnancies. Unfortunately, no concrete strategy, concerning prenatal diagnosis, can be proposed.

Abnormalities, Multiple↗
PubMed1989

[The CHARGE association].

The CHARGE association includes a group of several malformations, and always a coloboma and/or choanal atresia. We present 8 cases of this syndrome, 5 complete and 3 incomplete forms. Prognosis at term seems severe, considering the visceral malformations (namely cardiac) and the cerebral handicap often associated. In most cases the CHARGE association is a sporadic event; however, one cannot exclude the possibility that certain forms follow a Mendelian pattern of inheritance. The mechanisms leading to this association have not yet been elucidated: it is probably due to migration abnormalities of the neural crests as in the VATER association of Di George syndrome.

Abnormalities, Multiple↗
PubMed1988

[Hereditary congenital lymphedema with pseudosexual ambiguity].

A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.

Disorders of Sex Development↗
PubMed1986

[Reinfection after rubella and congenital polymalformation syndrome].

A case is reported of a term newborn with intra uterine growth retardation and numerous malformations such as complex heart disease, abnormalities of distal limbs, cleft palate. Death occurred after two days. The diagnosis of rubella embryopathy was confirmed by the following criteria: a high level of rubella antibodies in mother and newborn (1/1000) an isolation of rubella virus from the infant's urine. Diagnosis of rubella after reinfection was documented by a high level of antibodies in the mother three years before this pregnancy. Other observations reported in literature confirm the extreme rarity of congenital rubella after reinfection.

Abnormalities, Multiple↗
PubMed1985

[Fatal Marfan syndrome in the neonatal period].

Case-report of neonatal Marfan Syndrome with at birth the following observations: arachnodactyly, excessive length of arm, cardiac anomalies with hemodynamic troubles leading to death within 4 days. Anatomical data of the postmortem examination and histologic anomalies of the aorta confirm the diagnosis. No case of Marfan syndrome are to be found among forebearers. These characteristics underline the rarity, the gravity of the pronostic and the often sporadic appearance of the Marfan syndrome when revelated in the neonatal period.

Abnormalities, Multiple↗
PubMed1983

[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].

This paper relates two cases of a complex syndrome with unusual facies, restricted articular movements and accelerated skeletal maturation (already present at birth) in two siblings (brother and sister). These infants died in early age: one was ten days, the other six weeks old. Clinical and radiological findings of these newborns are part of both the Marshall-Smith and the Weaver syndrome, suggesting that these syndromes are one entity. The observation of affected siblings from unaffected parents favors autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMedDate not supplied

[Congenital hydrocephalus with gigantism].

Fetal ultrasonography supplied the diagnosis of hydrocephalus after 35 weeks of pregnancy. After birth, the diagnosis was confirmed by clinical examination and CT Scan. Psychomotor development was normal with stabilization of the hydrocephalus without any treatment. In view of this case, the authors discussed the indications for antenatal surgical treatment of hydrocephalus cases diagnosed in utero.

Adult↗