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A newborn with Dubowitz syndrome: a case report [Behcet Uz Cocuk Hast Derg]
Behcet Uz Cocuk Hast Derg. 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. Behcet Uz Cocuk Hast Derg. 2014; 4(3): 211-213

Corresponding Author: Özkan İlhan, Türkiye


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