AASE SYNDROME - NOVEL RADIOGRAPHIC FEATURES

被引：5

作者：

HING, AV

DOWTON, SB

机构：

[1] EDWARD MALLINCKRODT DEPT PEDIAT, DIV MED GENET, ST LOUIS, MO USA

[2] JAMES S MCDONNELL DEPT GENET, ST LOUIS, MO USA

[3] WASHINGTON UNIV, SCH MED, ST LOUIS, MO 63110 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 04期

关键词：

AASE SYNDROME; TRIPHALANGEAL THUMBS; HYPOPLASTIC ANEMIA; PELVIS;

D O I：

10.1002/ajmg.1320450402

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a female with hypoplastic anemia and abnormally digitalized thumbs who presented with growth failure and novel osseous radiologic abnormalities. In addition to thumb anomalies, abnormalities of the clavicles, ilia, distal sacrum, and coccyx and described.

引用

页码：413 / 415

页数：3

共 13 条

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