J Behcet Uz Child Hosp. 2014; 4(3): 211-213 | DOI: 10.5222/buchd.2014.211
A newborn with Dubowitz syndrome: a case report Özkan İlhan1, Senem Alkan1, Yaşar Bekir Kublay2, Esra Arun Özer1 1Department Of Neonatology, Tepecik Training And Research Hospital, Yenisehir, Izmir, Turkey. 2Department Of Medical Genetics, Tepecik Training And Research Hospital, Yenisehir, Izmir, Turkey. Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity. Keywords: Dubowitz syndrome, microcephaly, newborn Dubowitz sendromlu bir yenidoğan olgusu Özkan İlhan1, Senem Alkan1, Yaşar Bekir Kublay2, Esra Arun Özer1 1Tepecik Eğitim Ve Araştırma Hastanesi Neonatoloji Kliniği, İzmir 2Tepecik Eğitim Ve Araştırma Hastanesi Tıbbi Genetik Bölümü, İzmir Dubowitz sendromu ilk kez 1965 yılında Victor Dubowitz tarafından bildirildi. Dubowitz sendromu mikrosefali, kısa yapı, anormal yüz, egzamatöz cilt lezyonları ve hafif-orta dereceli mental retardasyon ile karakterize otomozal resesif geçen nadir bir hastalıktır. Tanımlanan yenidoğan kız olguda mikrosefali, mikrognati, yüksek damak, sindaktili, klinodaktili, ventriküler septal defekt, beslenme güçlüğü ve sakral gamze vardı. Bu olguyu nadir görülmesi nedeniyle yayınlama gereksinimi duyduk. Anahtar Kelimeler: Dubowitz sendromu, mikrosefali, yenidoğan Özkan İlhan, Senem Alkan, Yaşar Bekir Kublay, Esra Arun Özer. A newborn with Dubowitz syndrome: a case report. J Behcet Uz Child Hosp. 2014; 4(3): 211-213 Corresponding Author: Özkan İlhan, Türkiye	TOOLS Full Text PDF Print Download citation RIS EndNote BibTex Medlars Procite Reference Manager Share with email Share Send email to author Similar articles PubMed Google Scholar  (43 accesses)  (1589 downloaded)

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