ABSTRACT
Aims: The purpose of this study is to present a case of Harlequin fetus, which is extremely rare. Presentation of Case: A 27-year-old woman, gravida 3 para 1, was referred to the clinic with a diagnosis of preterm premature rupture of membranes. Upon ultrasound examination, a fetus with oligohydramnios at 30 weeks of pregnancy was determined. Fetal cardiac activity was present. The fetal nose and ears could not be visualized. The fetal mouth was opened wide and the lips were invisible. The wrists of the upper extremities were edematous. A cesarean section was performed, and a female fetus weighing 1140 g, 44 cm in length, and with 1st and 5th minutes Apgar scores of 6–8 was delivered. The fetal body was covered with dense keratin plaques, her eyes were in ectropion, and her nose and ears were also covered by thick keratin plaques. Eclabium lips, edematous wrists on the extremities, and the hands and feet in flexion were observed. The fetus died 24 hours later in the neonatal intensive care unit. The mother said that her second baby had the same conditions and died on postpartum day one. Discussion and Conclusion: Harlequin ichthyosis is extremely rare and is a severe congenital anomaly that has autosomal recessive inheritance patterns. Prenatal diagnosis can be based on the ultrasound findings and parents’ family history; this can contribute to our understanding of the disease and progress of pregnancy.
ABSTRACT
Aims: To share our experience in the management of a patient of congenital bladder exstrophy, who conceived spontaneously following Indiana pouch surgery for urinary diversion. surgery for congenital bladder exstrophy, reported for antenatal care. In the first year of her life, an ineffective operation was performed for closure of her abdominal wall defect. At 10 years of age she underwent cystectomy, trygonocuteneostomy, diastasis of pubic bones were fixed and urinary diversion operation was performed by Indiana pouch method. She was followed up at the antenatal clinic of Dicle University until 38th week of pregnancy. Thereafter, an elective caesarean section was performed and a live healthy female baby was delivered. Discussion and Conclusion: Bladder exstrophy is an extremely rare congenital abnormality. Woman with bladder exstrophy and lower urinary tract reconstruction surgery may conceive spontaneously. However they have a high risk pregnancy and an elective caesarian section is advocated for delivery. Review of literature and our experience is presented.
ABSTRACT
BACKGROUND: Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is the first report describing an important association between MBL2 gene polymorphisms and infections in children with DS. MATERIALS AND METHODS: We compared the frequency of single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene in a cross sectional cohort of 166 children with DS and 229 controls. Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in exon 1 of the MBL2 gene were typed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique using the restriction enzymes BshN1 (derivated from Bacillus sphaericus) and MboII (derivated from Moraxella bovis), respectively. RESULTS: MBL2 codon 54 GA genotype frequency was found to be lower in patients with DS (22.9%) than those of healthy controls (35.8%), differences were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P = 0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was detected in none of the DS patients, but only one person in the control group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P = 1.000). CONCLUSION: Our data provides an evidence for the first time that a homozygote or heterozygote for the variant, MBL2 alleles, is not associated with infections in patients with DS, and do not influence the incidence of infections.