Serdar Ceylaner

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The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD)(More)
Endometriosis is a chronic gynecological disease characterized by the growth of hormonally responsive, endometrial tissue outside the uterine cavity. The present study aims to analyze two vascular endothelial growth factor (VEGF) polymorphisms (−460 C/T and +405 C/G) in Turkish women with and without endometriosis. A case–control study was undertaken at the(More)
OBJECTIVE Our aim was to present a prenatally diagnosed case with Robinow syndrome in a consanguineous couple and discuss possible differential diagnosis in view of the literature. METHODS A 28-year-old pregnant woman gravida 2 para 1 was referred to the obstetric clinic of Kahramanmaras Sutcu Imam University presenting with a fetus having shortened upper(More)
The authors report 3 unrelated Turkish cases of disorganizationlike syndrome. All of these patients have accessory limbs, and 2 of them have accessory genitourinary structures. Interestingly, one of these patients has extrophia vesicalis of accessory bladder. None of them have chromosomal abnormality. Here the authors present distribution of findings of(More)
A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven generations, of whom 182 are affected. It appears that a founder effect in this village has led to this extensive kindred. This condition(More)
Meiotic segregation patterns of carriers of Robertsonian translocations (RT) are important for assessing the risk of unbalanced forms. We investigated the ratio of sperm with t(21;21) to sperm with nullisomy for chromosome 21; the segregation of the t(21;21) along with sex chromosomes, and also interchromosomal effects on chromosome 10 by using three color(More)
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly(More)
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene. The first sibling was admitted with respiratory insufficiency and required mechanical ventilation. After administration of a high dose of riboflavin, all his clinical(More)
Neonatal hyperthyroidism is a rare disorder and occurs in two forms. An autoimmune form is associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies and a nonautoimmune form is caused by gain of function mutations in the thyrotropin receptor (TSHR) gene. Thyrotoxicosis caused by germline(More)
We described a fetus who is delivered at 32.weeks of gestation by elective cesarian because of the fetal anhydria and unilateral hydronephrosis.A breech coming,1950 gr, 44 cm a newborn was delivered with multiple malformations and postpartum he didn't cry and siyanosis was appeared. After first interventions the newborns respiration didn't start and(More)