Premium
Radiological evolution in IMAGe association: A case report
Author(s) -
Amano Naoko,
Naoaki Hori,
Ishii Tomohiro,
Narumi Satoshi,
Hachiya Rumi,
Nishimura Gen,
Hasegawa Tomonobu
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32425
Subject(s) - medicine , ossification , dysplasia , endochondral ossification , hypoplasia , anatomy , etiology , pediatrics , pathology , cartilage
IMAGe association is a recently recognized multi‐system disorder of unknown etiology. IMAGe is a mnemonic acronym that stands for I ntrauterine growth retardation, M etaphyseal dysplasia, A drenal hypoplasia congenita, and G enital 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. © 2008 Wiley‐Liss, Inc.