dc.contributor.author | Rosti, Rasirn Oezguer | |
dc.contributor.author | Kayserili, Huelya | |
dc.date.accessioned | 2021-03-04T17:45:54Z | |
dc.date.available | 2021-03-04T17:45:54Z | |
dc.date.issued | 2009 | |
dc.identifier.citation | Rosti R. O. , Kayserili H., "Kabuki make-up syndrome with unilateral renal agenesis", TURKISH JOURNAL OF PEDIATRICS, cilt.51, ss.298-300, 2009 | |
dc.identifier.issn | 0041-4301 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_871f8f10-6237-4b38-83c2-630af393102e | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/91808 | |
dc.description.abstract | Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. Recognition of this entity is based upon unique facial appearance, including long palpebral fissures with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears and trapezoid philtrum, postnatal growth retardation, and mild to moderate mental retardation. We here report a seven-year, seven-month-old male patient with Kabuki syndrome who also had agenesis of the left kidney. We draw attention to the frequency and diversity of urogenital anomalies in this syndrome. | |
dc.language.iso | eng | |
dc.subject | Tıp | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | PEDİATRİ | |
dc.title | Kabuki make-up syndrome with unilateral renal agenesis | |
dc.type | Makale | |
dc.relation.journal | TURKISH JOURNAL OF PEDIATRICS | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 51 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 298 | |
dc.identifier.endpage | 300 | |
dc.contributor.firstauthorID | 192233 | |