Tubulinopathies are associated with malformations of cortical development but not Walker–Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker–Warburg Syndrome in utero ...began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker–Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the TUBA1A gene (NM_006009.4:c.848A>G; NP_006000.2:p.His283Arg) in the infant, who died at 2 months of age, as the likely cause. We report a previously unpublished, very rare heterozygous TUBA1A mutation with clinical features of macrocephaly and hypoplastic genitalia which have not previously been associated with the gene. The absence of eye phenotypes or mutations in Walker–Warburg-associated genes confirm this as not a new presentation of Walker–Warburg Syndrome but a novel TUBA1A tubulinopathy for neonatologists to be aware of.
We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her ...pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double aneuploidy in Croatia. This paper provides a detailed description of the clinical presentation and treatment strategies used, with the aim of providing valuable data for future recognition and management of similar cases. Furthermore, we discuss the mechanisms of nondisjunction that might account for this rare form of aneuploidy.
The aim of the study was to assess perinatal outcome of pregnancy burdened with maternal addiction in comparison with an unselected population from a European transition country.
Data on pregnancies ...complicated by illicit drug abuse (n = 85) managed during a 10-year period (1997-2007) at Split University Hospital were analyzed. Data on the type of drug, course of gestation and labor, and on perinatal outcome were considered. Data on all non-dependence pregnancies recorded during the study period were used as a control group.
During the study period, there were 85 dependence-complicated pregnancies (0.2%). Use of heroin alone during pregnancy was recorded in 51 women (50%), methadone alone in 6 (7%), and a combination of heroin and methadone in 9 (11%). Premature delivery was significantly more common in the group of pregnant addicts (21% vs. 6%); 49% of pregnant addicts were carriers of hepatitis C virus (HCV) and 14% of hepatitis B virus (HBV). Neonatal abstinence syndrome developed in 61 infants (7%) born to addicted mothers. There were 4 cases (4.6%) of early neonatal death; 7 neonates had 5-minute Apgar score < or = 7 (8%); 29 neonates had low birth weight for age (33%); and 7 neonates had congenital anomalies (8%). The risk of various congenital anomalies was 3-fold in the group of children born to addicted mothers.
Addiction pregnancies present a small but high-risk group according to perinatal outcome. Appropriate obstetric and neonatal care can reduce the rate of complications in these pregnancies and improve perinatal outcome.
The aim of the study was to determine the incidence of strabismus in preterm infants born between 2002 and 2005 in Split-Dalmatia County, and to compare it with term infants. Data were collected from ...Department of Public Health, Split-Dalmatia County and Strabology Outpatient Department, University Department of Ophthalmology, Split University Hospital Center. Strabismus was present in 796 (3.97%) children born between 2002 and 2005. Strabismus was diagnosed in 1.37% of term infants and 17.57% of preterm infants. Various factors can produce disorders in preterm infants, such as diffuse and focal defects of the white brain matter, and disorders of oligodendroglial cells, which may explain the higher incidence of strabismus in preterm infants as compared with term infants.
Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia. Both newborns had ...complex cardiac defects with isomerism of the lungs. The newborn with asplenia had dextrocardia, transposition of the great vessels, stenosis of the pulmonary artery, common atrioventricular canal and patent ductus arteriosus. The newborn with polysplenia had a common atrium, hypoplastic left ventricle and patent ductus arteriosus. The patient with asplenia had cystic dilated collecting ducts of the kidney and the patient with polysplenia had cerebellar cyst. These associate malformations have not been reported previously. Both cases were sporadic.
Cilj studije bio je ispitati incidenciju strabizma u nedonoščadi rođene između 2002. i 2005. godine u Splitsko-dalmatinskoj županiji, te ju usporediti s onom u djece rođene u terminu. Podatci su ...prikupljeni iz Uprave za javno zdravstvo Splitsko-dalmatinske županije i Strabološke ambulante Klinike za očne bolesti Kliničkog bolničkog centra Split. Strabizam je zabilježen kod 796 (3,97%) djece rođene u navedenom razdoblju. Strabizam je dijagnosticiran kod 1,37% djece rođene u terminu i 17,57% nedonoščadi. Kod nedonoščadi različiti čimbenici mogu izazvati poremećaje kao što su difuzni i žarišni defekti bijele moždane tvari, te poremećaje oligodendroglijalnih stanica, što bi pak moglo objasniti višu incidenciju strabizma kod nedonoščadi u usporedbi s djecom rođenom u terminu.
PLAN I PROGRAM PERINATALNE ZAŠTITE U HRVATSKOJ Dražančić, Ante; Benjak, Vesna; Blašković-Kokeza, Jadranka ...
Gynaecologia et perinatologia,
06/2008, Letnik:
17, Številka:
2
Web Resource
PDF
