1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype-phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.

Percutaneous closure of patent ductus arteriosus in premature infants: A French national survey.

BACKGROUND: Transcatheter closure of patent ductus arteriosus (PDA) in premature infants has been shown to be feasible in small series. Outcomes in larger series are currently lacking. MATERIAL: All premature infants (< 36 weeks GA) who underwent transcatheter PDA closure were included in a multicenter French national survey. Demographic data (gestational age [GA], birth weight [BW]) and procedural data (weight [PW], age at procedure [AP], procedural success, fluoroscopy time, and type of device) were collected. Outcomes and procedural complications were reviewed. RESULTS: Between September 2013 and June 2017, 102 patients were included. In 71 cases, PDA pharmacological closure had been attempted. Mean GA was 27 ± 2.9 weeks. Mean BW and PW were 1,040 ± 715 g and 1,543 ± 698 g, respectively. Mean AP was 39 ± 26 days. Number of premature infants <1 kg, between 1 and 2 kg, and > 2 kg was 21, 59, and 22, respectively. Mean fluoroscopic time was 6.5 min. Success rate was 99%. Device- or procedure-related complications were reported in nine patients (8.9%) including three LPA stenoses (requiring surgery in two and balloon dilatation in one), two neo-coarctations (one requiring subsequent surgery), and three instances of tricuspid valve regurgitation at follow-up. Seven deaths were reported, none being related to the procedure. Mean follow-up was 39.75 ± 13.1 months. CONCLUSION: In this large series of premature infants undergoing transcatheter PDA closure, it was demonstrated that this procedure can be performed successfully in the vast majority of patients with an acceptable complication rate. Future efforts should focus on minimizing complications, particularly device-related vascular stenoses.

Transcatheter closure of hemodynamic significant patent ductus arteriosus in 32 premature infants by amplatzer ductal occluder additional size-ADOIIAS.

OBJECTIVES: The advent of Amplatzer Duct Occluder II additional Size (ADOIIAS) provided the potential to close hemodynamic significant patent ductus arteriosus (HSPDA) and to analyze the feasibility, safety and efficacy of the device. BACKGROUND: Treatment of a patent ductus arteriosus (PDA) in very premature neonates is still a dilemma for the neonatalogist who has to consider its significance and has to choose among different treatment options. Because surgical ligation and medical therapy both have their drawbacks, interventional catheterization might provide an alternative means of closing HSPDA. MATERIAL AND METHODS: Between September 2013 and June 2015, 32 premature infants with complications related to HSPDA defined by ultrasound (US) underwent transcatheter closure. The procedure was performed in the catheterization laboratory by venous cannulation without angiography. The position of the occluder was directed by X-ray and US. In particular we looked at procedural details, device size selection, complications, and short and mid-term outcomes. RESULTS: Thirty two premature infants, all of whom had clinical complications related to HSPDA, born at gestational ages ranging between 23.6 and 36 weeks (mean ± standard deviation 28 ± 3 weeks) underwent attempted transcatheter PDA closure using the ADOIIAS. Their mean age and weight at the time of procedure was 25 days (range 8-70 days) and 1373 g (range 680-2480 g), respectively. Ten infants weighed ≤1,000g. All ducts were tubular. The mean PDA and device waist diameters were 3.2 ± 0.6mm (range 2.2-4) and 4.4 ± 0.6 mm, respectively, and the mean PDA and device lengths 5.2 ± 2.0 mm (range 2-10) and 3.4 ± 1.3 mm. Median fluoroscopy and procedural times were 11 min (range 3-24) and 28 min (range 10-90), respectively. Complete closure was achieved in all but one patient. There was no device migration. A left pulmonary artery (LPA) obstruction developed in one patient. Five infants died. Four deaths were related to complications of prematurity and one death in a 680 g infant was related to the procedure. CONCLUSIONS: It is feasible to close HSPDA in relative safety in premature infants who have severe and complex disease. Success requires perfect selection of the occluder and exact positioning by US. © 2017 Wiley Periodicals, Inc.

Necrotic skin lesions and cerebral infarction in the newborn: two case reports.

Localized skin necrosis with deeper soft tissue injury at birth is unusual and has been rarely reported in association with cerebral infarction. Two cases with forearm necrotic skin associated with injured deeper soft tissue are described in which brachial artery thrombosis was documented. Considering the possibility of disseminated thrombosis, cerebral ultrasound showed brain infarction due to unilateral middle cerebral artery thrombosis on Doppler. The origin of the embolism was identified in the inferior vena cava and umbilical and portal vein. No thrombophilia or other risk factors were identified. The various causes of the cutaneous lesions pointed to an antenatal process whose etiology and mechanisms are discussed. Localized necrotic skin lesions must be considered as part of a systemic embolic process and can lead to extensive especially cerebral ultrasound exploration.

Arthrogryposis Multiplex Congenita Related to Third-Trimester Basal Ganglia Ischemia: A Case Report.

Arthrogryposis multiplex congenita is a syndromic condition defined by contracture of 2 or more joints. A large range of etiologies has been reported such as neuromuscular disorders (peripheral dysfunction), chromosomal abnormalities, or cerebral malformations (central dysfunction) leading to fetal immobility. Severity of arthrogryposis depends on the etiology and duration of fetal immobility. The authors report a 34 gestational weeks infant presenting with severe diffuse arthrogryposis symptoms and respiratory failure at birth. Her mother experienced cardiac arrest at 29 gestational weeks due to carbon monoxide intoxication. Fetal magnetic resonance imaging revealed extensive corticospinal tract lesions. Antenatal ischemia of the deep gray matter needs to be considered as a possible arthrogryposis cause.

Outcome of cerebellar injury in very low birth-weight infants: 6 case reports.

Cerebellum injury is a severe and underestimated complication in very low birth-weight infants. Six cases of extreme premature babies are reported: 3 of them died during the neonatal period; the other 3 survived with severe neurological disabilities. Microcephaly, strabismus, and severe developmental delay without major motor handicap are very peculiar for the preterm in the long-term outcome. Easy diagnosis is possible by specific ultrasound windows and early diagnosis is required regarding the possible severe prognosis and to organize precisely the follow-up.