Yazar "Ceylaner, Serdar" seçeneğine göre listele

Listeleniyor 1 - 2 / 2
  • Küçük Resim
    Öğe
    Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?
    (Wiley, 2013) Aldemir, Ozgur; Ozen, Samim; Sanlialp, Cigdem; Ceylaner, Serdar
    Isolated adrenocorticotropic hormone deficiency is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated cause of neonatal death. Low estriol levels are usually correlated with compromised uteroplacental perfusion and associated with fetal death. A 30-years old woman applied for pregnancy follow-up. Ultrasonographic evaluation and karyotype of the fetus are normal. Low estriol level 0.34 MoM (% 0.24) was detected in maternal triple screening test. Amniocentesis was performed, and chromosomal disorders, steroid sulfatase deficiency, and Smith-Lemli-Opitz syndrome (SLOS) were excluded with karyotype, fluorescence in situ hybridization (FISH), and molecular analysis of SLOS, respectively. As their first child had pro-opiomelanocortin (POMC) deficiency, POMC gene analysis was performed from both amniotic fluid and ethylene diamine tetra aceticacid (EDTA) blood sample of affected previous child, and homozygote mutation was detected. Fetus is diagnosed as POMC deficiency. We are presenting this case to discuss possible relationship of low maternal E3 levels and fetal POMC deficiency. (c) 2013 John Wiley & Sons, Ltd.
  • [ N/A ]
    Öğe
    A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail
    (2008) Guven, M.A.; Uzel, M.; Ceylaner, Serdar; Coskun, A.; Ceylaner, G.; Gungoren, A.
    A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail. We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs, tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature. However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.