Yazar "Sert A." seçeneğine göre listele
Listeleniyor 1 - 5 / 5
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe The association of common atrium with smith-lemli-opitz syndrome in an infant(2008) Sert A.; Pirgon Ö.; Atabek M.E.; Dogan M.Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect is found in half of the Smith-Lemli-Opitz syndrome patients. To our knowledge, the association of common atrium and Smith-Lemli-Opitz syndrome has not been described before in the medical literature. We present a 4-month-old infant case of such association.Öğe Cranial ultrasound as a non-invasive diagnostic technique in the diagnosis of subdural haemorrhage [5](2007) Sert A.[Abstract not Available]Öğe Öğe Papillon-Lefevre Syndrome [Papillon-Lefevre Sendromu](2007) Pirgon Ö.; Atabek M.E.; Sert A.Papillon-Lefevre Syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age. Papillon-Lefevre Syndrome is characterized by the development of palmar-plantar hyperkeratosis and early loss of the primary (deciduous) and permanent teeth due to rapidly progressive periodontopathy. The primary (deciduous) teeth frequently become loose and fall out by about five years of age. In the general population, the disorder occurs in approximately one to 4 individuals per 1.000.000. Here we present a Papillon-Lefevre Syndrome case, which is rarely seen, with a review of the literature.Öğe Two new Kabuki cases of Kabuki make-up syndrome(2006) Sert A.; Atabek M.E.; Pirgon Ö.Kabuki syndrome (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple congenital anomaly/mental retardation syndrome. We report on an 11-month-old girl with Kabuki make-up syndrome who has premature telarche, premature pubarche and epilepsy, and a 4-month-old boy with Kabuki make-up syndrome who had been operated due to diaphragmatic hernia and had mesocardia confirmed by echocardiography. In the study, we emphasize that careful phenotypic examination of children should be performed in every patient presenting with mental retardation and epilepsy to diagnose Kabuki syndrome and the patients diagnosed as Kabuki syndrome should be followed for precocius puberty. We suggest that mesocardia, which has not been reported in the literature yet, may be considered as one of the cardiological findings of Kabuki syndrome and all Kabuki patients should be evaluated for life-threatening complications of congenital diaphragmatic hernia.
