Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.

We report the prenatal diagnosis of a mosaic 45,X/46,X,r(X)/46,XX foetus after amniocentesis for maternal second-trimester serum screening. Biparental contribution for the X chromosomes suggest the postzygotic formation of the X ring. The ring is tiny but contains the X-inactive-specific transcript gene (XIST). However, we could not determine whether XIST was correctly expressed or not. The foetal ultrasound examination at 21, 25, 31 weeks' gestation showed no physical abnormalities, prompting the parents to continue the pregnancy. Physical examination at one year-old revealed normal growth and psychomotor development. Only three cases exhibiting an identical 45,X/46,X,r(X)/46,XX mosaicism, but detected postnatally, are reported in the literature. This is the first reported case ofa mosaic 45,X/46,X,r(X)/46,XX identified in the prenatal period.

Apert syndrome, an antenatal ultrasound detected case.

Apert's syndrome or acrocephalosyndactyly type I is an autosomal dominant craniosynostosis syndrome with abnormalities of the hands and feet. Most cases occur as new mutations. Mental retardation is frequent because of central nervous system abnormalities. A case of Apert's syndrome detected by antenatal ultrasound examination is reported by the authors.

[The fetal head: from screening to diagnosis]. / Le pôle céphalique foetal: du dépistage au diagnostic.

The implementation of a prenatal screening ultrasound program to the general population requires a few rules. The sonographers must be adequately trained and the required imaging planes of the fetal head must be easy to acquire and be readily reproducible irrespective of the technology used. Screening for the presence of a potential local or global anomaly can be mainly established from a reference image. The diagnosis of an anomaly is confirmed from a different medical approach and is usually done during the second trimester (21 weeks GA).

[Clinical heterogeneity of Townes-Brocks syndrome]. / Hétérogénéité clinique du syndrome de Townes-Brocks.

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant entity mainly characterized by ano-rectal, ear and extremities abnormalities with variable clinical expression. CASE REPORTS: The first case had ear and extremities, but not anorectal, abnormalities; a Pierre-Robin sequence with esophageal atresia was also observed. The second case had the classical triad of abnormalities also associated with tetralogy of Fallot which has been only once reported in the literature. CONCLUSIONS: Both cases are other examples of the frequent clinical variability observed in this syndrome explaining diagnostic difficulties in the absence of a specific marker.

[Prenatal diagnosis of congenital cystic adenomatoid malformation of lung: perinatal management. Apropos of 4 cases]. / Malformation kystique adénomatoïde pulmonaire congénitale de diagnostic anténatal: prise en charge périnatale. A propos de quatre observations.

BACKGROUND: Cystic adenomatoid malformation of the lung can be seen by ultrasonography during pregnancy. Surgical excision of the affected lobe is indicated during the first days of life. CASES REPORT: Four neonates were admitted to an intensive care unit from March 1988 to February 1992, due to cystic adenomatoid malformation of the lung, that had been diagnosed by ultrasonography at 19, 22, 34 and 37 weeks of gestational age, respectively. These malformations were not associated with other abnormalities and were type I (three cases) and II (one case) according to Stocker's classification. Only one patient became symptomatic, requiring intubation by 72 hours of age. Surgical excision of the affected lobe was performed in three patients at 4 hours, 2 and 7 days of life, respectively, with a normal long-term survival. A segmental resection was performed at 5 days of life in the remaining symptomatic patient but persistence of cystic lesions required lobectomy at 10 months. CONCLUSIONS: Early perinatal management of cystic adenomatoid malformations of the lung is necessary as surgical excision is indicated as soon as possible, even in asymptomatic patients.

[Cystic hygroma of the neck. Antenatal diagnosis, prognostic factors, management. 42 cases]. / Hygroma kystique du cou. Diagnostic anténatal, facteurs pronostiques, contduite à tenir. A propos de 42 cas.

The authors report a series of 42 cases of cystic hygroma of the fetal neck diagnosed antenatally. Cystic hygroma is one of the signs suggestive of chromosomal or congenital abnormalities that occur very early and are very specific. A diagnosis can be made from the ninth week of amenorrhoea onwards by vaginal ultrasound. 73% of the karyotypes that were obtained were abnormal. The large majority (54% = have Turner's Syndrome, but there are some of the karyotypes that are normal. Our figures correspond with those in the literature. Several factors were analysed to show the influence of this pathology on the prognosis which is overall awful (only 11.5% of infants were born alive an only 7.5% survived). Factors for a good prognosis would be a normal karyotype and the spontaneous resolution of cystic hygroma in the second trimester of the pregnancy. Hydrops is a factor of poor prognosis and it occurs in 60% of cases of cystic hygroma but unfortunately 30% of cases where the karyotype is normal have severe malformations (bone, kidney and digestive tract). The resolution of the cystic hygroma in the second trimester of pregnancy does not exclude an abnormal karyotype or a severe congenital malformation associated with the condition. As cases do recur in the same family there is an indication that a suspicion that the condition can be an autosomic, recessive or even dominant condition. The authors advise that the diagnosis should be made early and thoroughly in order to carry out chorionic villus sampling to determine the karyotype early before the very important sign for abnormality disappears as it may.

[Prenatal diagnosis of camptomelic dysplasia]. / Un diagnostic anténatal de dysplasie campomélique.

A case of antenatal diagnosis of campomelic dwarfism is reported. The diagnosis was established because of polyhydramnios at 37 weeks of amenorrhoea allowing the discovery through ultrasonography of an uretreral dilatation along with dwarfism. The X-Rays of the uterine contents established the diagnosis. The possibility of the antenatal diagnosis is considered before 20 weeks with an ultrasonography where limbs are systematically measured. As recessive autosomic recession is likely, research must above all be undertaken into past records. Amniocentesis at 16 weeks of amenorrhoea would make it possible to establish the diagnosis if the chromosome type is XY with weak amniotic androgens. Often in this type of anomaly it is difficult to differentiate the sexes.

[Antenatal diagnosis of goiter by ultrasonography]. / Diagnostic anténatal de goitre par ultrasonographie.

A case of foetal goiter diagnosed by ultrasonography is reported. A first child had been under treatment since the age of 4 months for goitrous hypothyroidism. A second pregnancy developed normally. However, at 27 weeks a first ultrasonography showed hypertrophy of the foetus' thyroid gland, and this was confirmed by a second ultrasonic examination performed at 34 weeks. The femoral ossification centre, which usually appears between 31 and 33 weeks of amenorrhoea, was absent. The child was born at 41 weeks. Additional examinations confirmed the presence of hypothyroidism with goiter and disorders of organification. This is the third case of foetal goiter discovered in utero by ultrasonography. The important therapeutic implications of such a diagnosis (appropriate neonatal intensive care in case of compressive goiter, very early treatment of hypothyroidism) open new possibilities of monitoring in pregnant women whose history suggests a risk of foetal goiter.

Direct neurectomy of the motor branches of the tibial nerve in hemiplegic adults: an assessment with a mean follow-up period of 11 years.

INTRODUCTION: Neurectomy of the tibial nerve plays a major role in the relief of disabling spasticity, which is refractory to drug treatment and physiotherapy. Although the immediate postoperative results are generally satisfactory, few evaluations of the procedure's long-term efficacy have been published. OBJECTIVE: To estimate the long-term efficacy of total or partial neurectomy of the motor branches of the tibial nerve (combined with additional orthopaedic surgery in some cases). METHOD: A descriptive, retrospective study of 25 brain-damaged patients having undergone neurectomy at least 4 years ago. RESULTS: The mean post-neurectomy follow-up period was 11 years. Twenty patients became less dependent on the use of walking aids. Of the 18 patients unable to walk barefoot before surgery, 11 could do so after surgery. Of the 12 patients unable to walk on uneven ground before surgery, seven could do so afterwards. The walking distance increased for 20 patients. In 22 cases, the spasticity disappeared immediately after the operation and did not reappear in the long-term. In three other cases, spasticity persisted postoperatively and, in the long-term, affected the soleus (the denervation of which had been incomplete or not performed). Eighty-three percent of the patients were satisfied with the operation's outcome. CONCLUSIONS: The observed maintenance of the benefits of total or partial neurectomy after an average follow-up period of 11 years confirms the value of this procedure. The few mediocre outcomes (observed in cases of partial neurectomy of the soleus) are in agreement with literature reports and emphasize the role of the soleus in this pathology.

[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".

[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'.

[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.

[Intraventricular hemorrhage in utero]. / Hémorragie intraventriculaire in utero.

A case of fetal intraventricular hemorrhage related to subependymal hemorrhage diagnosed by ultrasound scanning at 27 weeks of PMA is reported. No etiology was found. The outcome was favorable. This case suggests that some cases of neonatal idiopathic hydrocephalus may be explained by fetal subependymal/intraventricular hemorrhage.