Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia - Case report

被引：7

作者：

McFarren, Alicia

Jayabose, Somasundaram

Ozkaynak, Mehmet Fevzi

Tugal, Oya

Sandoval, Claudio

机构：

[1] New York Med Coll, Dept Pediat, Valhalla, NY 10595 USA

[2] Maria Fareri Childrens Hosp, Valhalla, NY USA

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2007年 / 29卷 / 05期

关键词：

cleft palate; external auditory canal atresia; Diamond-Blackfan anemia;

D O I：

10.1097/MPH.0b013e31805d8f45

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Diamond-Blackfan anemia (DBA) is associated with congenital anomalies especially of the midline. When present, facial anomalies are reminiscent of Treacher-Collins syndrome, and both DBA and Treacher-Collins syndrome are disorders of ribosomal biogenesis. Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies.

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收藏

页码：338 / 340

页数：3

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