Soltanova Gulare, Avcu Oral Niham, Gümrük Fatma, Şimşek Kiper Pelin Özlem, Ünal Şule
Department of Pediatrics, Hacettepe University, Ankara, Türkiye.
Department of Pediatric Hematology, Hacettepe University, Ankara, Türkiye.
Turk Arch Pediatr. 2024 Jun 17;59(4):364-369. doi: 10.5152/TurkArchPediatr.2024.23193.
Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities. A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities. The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists' physical examination.
钻石-黑范贫血（DBA）是一种罕见的遗传性红系造血障碍，其特征为严重的大细胞性贫血、先天性畸形和易患癌症倾向。本研究的目的是以横断面方式确定DBA患者的先天性异常和畸形特征。研究组包括1983年至2017年间被诊断为DBA的患者。由一位经验丰富的畸形学家对患者进行畸形学检查，并进行超声心动图和腹部超声检查以查明心脏和泌尿生殖系统异常。本研究共检查了45例患者。畸形学检查、超声心动图和腹部超声检查显示先天性异常发生率高达88.7%。考虑到先天性异常，最常见的发现是颅面部异常，其次是骨骼异常。我们系列患者中的异常发生率高于先前报道，很可能是因为我们队列中的评估由畸形学家进行，而不仅仅依赖于患者记录或血液学家的体格检查。
