Radiological evolution in IMAGe association: A case report
Radiological evolution in IMAGe association: A case report
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DOI：
10.1002/ajmg.a.32425
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发表时间：
2008-08-15
影响因子：
2
通讯作者：
Hasegawa, Tomonobu
中科院分区：
文献类型：
--
作者：
Amano, Naoko;Naoaki, Hori;Hasegawa, Tomonobu
表象联想是近年来发现的一种病因不明的多系统障碍。IMAGE是一个助记符缩写，代表胎儿宫内发育迟缓、干骺端发育不良、先天性肾上腺发育不良和生殖器畸形(OMIM 300290)。这种疾病的怀疑很容易被独特的临床和内分泌系统所引起，而干骺端发育不良的放射学鉴定对于诊断是至关重要的。然而，关于干骺端发育不良的发病、演变、严重程度和变异的知识目前是有限的。我们举例说明了一个受影响的女孩从早产到儿童早期的放射学演变。她最初的骨骼变化包括肋骨变薄，近端骨骼延迟骨化，以及骨盆延迟骨化。前两个人在婴儿期变得不那么引人注目。生时未发现干骺端发育不良。然而，轻度干骺端拔罐、硬化和纵纹在婴儿期后期开始明显，然后随着年龄的增长而发展。影像联想中的骨骼改变被认为包括软骨内骨化迟缓，后来恢复正常，以及出生后起病的轻度干骺端发育不良。(C)2008年Wiley-Liss，Inc.
IMAGe association is a recently recognized multi-system disorder of unknown etiology. IMAGe is a mnemonic acronym that stands for Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies (OMIM 300290). Suspicion for the disorder is readily raised by the distinctive clinical and endocrinological constellation, and radiological identification of metaphyseal dysplasia is crucial for the diagnosis. However, knowledge of the onset, evolution, severity, and variation of the metaphyseal dysplasia is currently limited. We illustrate the radiological evolution of an affected girl from her premature birth to early childhood. Her initial skeletal changes included thin ribs, delayed ossification of the juxtatruncal bones, and delayed epiphyseal ossification. The former two became less conspicuous during infancy. Metaphyseal dysplasia was not discerned at birth. However, mild metaphyseal cupping, sclerosis and longitudinal striations became manifest in late infancy, and then progressed with age. It is thought that the skeletal alterations in IMAGe association encompass retarded endochondral ossification normalized later on and mild metaphyseal dysplasia of postnatal onset. (C) 2008 Wiley-Liss, Inc.