Radiological evolution in IMAGe association: A case report

Naoko Amano, Hori Naoaki, Tomohiro Ishii, Satoshi Narumi, Rumi Hachiya, Gen Nishiniura, Tomonobu Hasegawa

研究成果: Article査読

11 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)2130-2133
ページ数4
ジャーナルAmerican Journal of Medical Genetics, Part A
146
16
DOI
出版ステータスPublished - 2008 8月 15

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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