Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays.

Brachydactyly, or shortening of the digits, is due to the abnormal development of phalanges, metacarpals and/or metatarsals. This congenital malformation is common, easily detectable clinically but often requires additional radiological exploration. Radiographs are essential to characterize the type of brachydactyly and to show the location of the bone shortening, as well as any associated malformation. This article reviews the radiological findings for isolated brachydactylies (according to the types classified by Bell, and Temtamy and McKusick) and for brachydactylies that are part of complex multisystem malformation syndromes. If warranted by the clinical and radiological examinations, a genetic analysis (molecular and/or cytogenetic) can confirm the etiologic diagnosis.

[Rare case of bilateral pulmonary agenesis and prenatal diagnosis]. / Diagnostic anténatal d'une agénésie pulmonaire bilatérale : une observation exceptionnelle.

Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

[When should evoke prenatal paternal uniparental disomy 14?]. / Quand faut-il évoquer en anténatal une disomie uniparentale paternelle 14 ?

The paternal uniparental disomy 14 is a rare malformation syndrome whose postnatal pathognomonic sign is the deformation of the rib as coat hanger. In prenatal, ultrasonographic signs are major recurrent polyhydramnios, a narrow thorax and deformed long bones short and sometimes other anomalies including ends. The authors report one rare case of prenatal paternal uniparental disomy 14 with the deformation of the rib as coat hanger. Prenatally, the narrow deformed thorax can be searched by ultrasound three-dimensional (3D) and/or helical CT and thus represent an aid to prenatal diagnosis.

[Is the bronchial atresia prenatal diagnosis possible?]. / Le diagnostic anténatal d'atrésie bronchique est-il possible ?

Bronchial atresia is a rare congenital malformation of the lung. The main-stem segmental or lobar bronchus fails to construct normally, which can lead to accumulation of mucus within the distal bronchi or lung hyperinflation of the obstructed lobe. The prenatal diagnosis is rare and difficult. We report two cases of fetuses who presented pathological examination of the lung on the ultrasonography, at 22 weeks of gestation, suspect of prenatal bronchial atresia diagnosis. We analysed this malformation through a literature review in order to discuss differential diagnosis to be evoked, as well as appropriate perinatal management.

[Value of multidetector-row computed tomography for infantile renovascular hypertension: report of two cases]. / Apport de la tomodensitométrie multicoupe dans l'hypertension rénovasculaire du nourrisson: à propos de deux cas.

The work-up of renovascular hypertension (10% of children hypertension cases) benefits from multiple imaging modalities. These two cases show the difficulties encountered with infant and underscore "the major role" of the computed tomography angiography within for diagnosis and management. Indeed CTA allows reproducible studies of abdominal vessels at the expense of radiation exposure.

Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.

We report the prenatal diagnosis of a fetus with sacrococcygeal teratoma and facial dysmorphism attributed to a constitutional terminal deletion of chromosome 7q and partial trisomy of chromosome 2p likely resulting from a de novo balanced translocation. The cytogenetic abnormality was diagnosed prenatally after sonographic detection of teratoma and confirmed on peripheral blood cells at birth. The newborn died of post-operative complications at seven days of age. FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. Despite the absence of other features of the triad, the teratoma observed in the fetus we describe might represent a partial form of Currarino syndrome.

Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.

Cleidocranial dysplasia (CCD) is a congenital disorder of bone development characterized by persistently open or delayed closure of cranial sutures and wormian bones, hypoplastic and/or aplastic clavicles, wide pubic symphysis, dental anomalies and short stature. The condition is inherited as an autosomal-dominant trait and the human CBFA1 gene has been identified as the CCD gene. We describe a prenatal form of the skeletal disorder that included clavicular hypoplasia, absence of ossification of the cranial parietal bones and very poor ossification of the frontal and pubic bones. Growth restriction affecting only the long bones was also noted. The fetal karyotype revealed an apparently de novo balanced t(2q;6q)(q36;q16) translocation. This particular form of skeletal disorder associated with the absence of family history and an apparently de novo balanced translocation led the parents to opt for termination of the pregnancy.

Limitations of ultrasonography for diagnosing white matter damage in preterm infants.

OBJECTIVES: To compare the accuracy of ultrasonography (US) and magnetic resonance imaging (MRI) in diagnosing white matter abnormalities in preterm infants and to determine the specific indications for MRI. DESIGN: Prospective cohort study. SETTING: A neonatal intensive care unit in France. PATIENTS: All preterm infants (

Fetal lung volume: estimation at MR imaging-initial results.

PURPOSE: To plot normal fetal lung volume (FLV) obtained with fast spin-echo magnetic resonance (MR) images against gestational age; to investigate the correlation between lung growth and fetal presentation, sex, and ultrasonographic (US) biometric measurements; and to investigate its potential application in fetuses with thoracoabdominal malformations. MATERIALS AND METHODS: In a prospective multicenter study, 336 fetuses suspected of having central nervous system disorders underwent fast spin-echo T2-weighted lung MR imaging. Data obtained at 21-38 weeks gestation in 215 fetuses without thoracoabdominal malformations and with normal US biometric findings were selected for an FLV normative curve. FLV measurements obtained at pathologic examination with an immersion method were compared with MR FLV measurements in 11 fetuses. MR FLV values in 16 fetuses with thoracoabdominal malformations were compared with the normative curve. RESULTS: Normal FLV increased with gestational age as a power curve; the spread of values increased with age. Interobserver correlation was excellent (R(2) = 0.96). FLV measurements at MR imaging were 0.90 times those at pathologic examination. A constant ratio (0.78) between FLV on the left and right sides was observed. No significant difference in FLV was observed between fetal presentations. Normal FLV was observed in all fetuses with cystic adenomatoid malformations and in four of six with oligohydramnios. Lowest FLV values were observed in fetuses with diaphragmatic hernia. CONCLUSION: In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.

Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester.

A diagnosis of Apert syndrome, suspected at 24 weeks' gestation after conventional sonography showing turribrachycephaly and syndactyly of hands and feet, was confirmed at 26 weeks' gestation by tridimensional sonography and magnetic resonance imaging. This is only the second prenatal diagnosis reported at mid-trimester, excluding cases published from affected mothers or in connection with a context of recurrence. Additional findings have been collected from tridimensional sonography (mid-facial hypoplasia, downslanting palpebral fissures) and from magnetic resonance imaging (verticalization of the clivus and flattened angle of the cranial base).

[Fetal renal venous thrombosis: a typical ultrasonographic aspect]. / Thrombose veineuse rénale du foetus: un aspect échographique typique.

We report a case of RVT, diagnosed at 34 weeks' gestation in a case of fetal distress occurring four days after an acute maternal gastroenteritis. The typical ultrasonic pattern included renal enlargement, with parenchymal hyperechogenicity and venous echoic streaks, loss of the cortico-medullary boundary and lack of definition of renal sinus echoes. Color Doppler velocimetry confirmed the absence of venous flow with an increased vascular resistance in the renal artery. After delivery by an emergency caesarean section the infant had a full anatomical and functional recovery of his affected kidney at the seventh day of life.

Renal venous thrombosis: an unusual cause of fetal distress.

Renal venous thrombosis (RVT) is a rare event in neonates and infants. Its incidence varies from 0.5 per thousand concerning admissions in neonatal intensive care units to 0.5% in autopsic findings. Some cases may occur in the antenatal period. Clinical presentation in infants includes a mass in the flank. hematuria and thrombocytopenia. We report a case of RVT which was diagnosed at 34 weeks' gestation by ultrasound in a fetus showing cardiotocographic signs of fetal distress. We observed the typical pattern reported by pediatric radiologists: renal enlargement, loss of the cortico-medullary boundary, echoic streaks following the direction of interlobular veins, lack of definition of renal sinus echoes and loss of venous flow in the right kidney by Doppler velocimetry. After delivery by caesarean section and transient hyperbilirubinemia and moderately impaired renal function the infant weighing 2435 g had a full recovery at 1 week and a normal evolution at 1 month of life.

[Galen vein aneurysm. Review of the literature and report of 2 cases]. / Anévrysme de la veine de Galien. Revue de la littérature à propos de 2 cas.

Aneurysm of the vein of Galen is a rare congenital disease, with a generally poor prognosis. It represents less than 1% of cerebral arteriovenous malformations. The intrauterine diagnosis of this vascular anomaly has been facilitated by vascular exploration with pulsed and color Doppler sonography. According to some studies focused on prognostical criteria, the perinatal prognosis seems to be invariably compromised when signs of cardiac decompensation develop prenatally, knowing that early delivery may generate additional complications in the very premature infant. Medical treatment is inefficient, because of the large, persisting systemic shunt, so that pregnancy termination may be performed, after parental consent, in some cases demonstrating all signs of cardiac decompensation. On the other hand, infants with normal velocity waveforms and a low extent of the systemic shunt have a good extrauterine adaptation. A full clinical evaluation of the affected neonates at the end of the first week of live is now the best way to select the infants for intravascular embolization.

[Torsion of normal adnexa in children]. / Les torsions d'annexe saine chez l'enfant.

Seven cases of torsion of normal uterine adnexa are reported in children aged 4 to 15 years. In one case diagnosis was made by ultrasonography, allowing conservative treatment under coelioscopy. In the 6 other cases the necrosis of the ovary required its excision. The torsion concerned the ovary and uterine tube in 6 cases and the uterine tube alone in one. In 2 cases, the apparently healthy contralateral ovary was enlarged. From this series, the authors review the clinical and ultrasonographic features of the torsion of normal uterine adnexa. Ultrasonography should be performed in emergency as the conservation of the ovary depends on the precocity of diagnosis and treatment.

[Lateral tracheal indentation or compression by the brachiocephalic arterial trunk in children]. / Empreinte ou compression trachéale latérale due au tronc artériel brachio-céphalique chez l'enfant.

Three cases of compression of the right wall of the trachea by buckling of the innominate artery in childhood are described. A coarctation of the thoracic aorta is associated in two cases, and a left cervical aortic arch in the third one. In one case, a severe tracheomalacia occurs following the surgical repair of the associated coarctation. This lateral indentation of the trachea is suggestive of right aortic arch but the absence of posterior oesophageal indentation excludes the diagnosis. Angiography is helpful and echography is unable to demonstrate the vascular origin of the tracheal compression. The authors analyse the correct diagnostic approach, emphasize the risk of tracheomalacia and the high rate of associated cardio-vascular malformations.

[Injuries of the liver in children. Review apropos of 30 cases]. / Les traumatismes du foie chez l'enfant. Revue à propos de 30 observations.

Between 1970 and 1983, 30 children have been treated for a liver trauma. 16 were from 5 to 10 years old. 6 had solitary hepatic lesions and 24 had visceral or polytraumatic associated lesions. All but one were operated and 27 underwent an emergency laparotomy. Superficial tears and subcapsular hematoma were found in 11 cases while penetrating wounds (14), vascular injuries (3) and ruptures (2) represent 2/3 of the whole lesions. In five cases, hepatectomy was necessary. Half of the 6 deaths result of a vascular injury, the others of the associated lesions. We have a resolutely surgical behavior when collapse or polyvisceral lesions are patent, while in isolated blunt injury a single clinical and echographic follow up is justified. A CT scan is necessary when a penetrating wound is suspected completed with an angiography.