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伴有长头畸形的Imerslund综合征。

Imerslund syndrome with dolichocephaly.

作者信息

Ben-Ami M, Katzuni E, Koren A

机构信息

Department of Pediatrics B, Central Emek Hospital, Afula, Israel.

出版信息

Pediatr Hematol Oncol. 1990;7(2):177-81. doi: 10.3109/08880019009033388.

Abstract

Imerslund syndrome is a rare autosomal recessive disorder of megaloblastic anemia as a result of selective vitamin B12 malabsorption associated with proteinuria. An Arabic Muslim family is described, with three children who had inherited selective vitamin B12 malabsorption with proteinuria. Dolichocephaly was noted in all the male children of this family in association with congenital megaloblastic anemia and proteinuria. The findings of this anemia are compatible with Imerslund-Gräsbeck syndrome, and coexistence of this syndrome with dolichocephaly in a single family has not been previously reported.

摘要

伊默斯伦德综合征是一种罕见的常染色体隐性疾病,因选择性维生素B12吸收不良并伴有蛋白尿而导致巨幼细胞贫血。本文描述了一个阿拉伯穆斯林家庭,该家庭中有三个孩子遗传了选择性维生素B12吸收不良并伴有蛋白尿。在这个家庭的所有男性儿童中均发现有长头畸形,同时伴有先天性巨幼细胞贫血和蛋白尿。这种贫血的表现与伊默斯伦德-格雷斯贝克综合征相符,且此前尚无该综合征与长头畸形在单个家庭中共存的报道。

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