Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 2130-2133 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 146 |
| Issue number | 16 |
| DOIs | |
| Publication status | Published - 2008 Aug 15 |
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Keywords
- Adrenal hypoplasia congenita
- IMAGe association
- Metaphyseal dysplasia
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Radiological evolution in IMAGe association : A case report. / Amano, Naoko; Naoaki, Hori; Ishii, Tomohiro; Narumi, Satoshi; Hachiya, Rumi; Nishiniura, Gen; Hasegawa, Tomonobu.
In: American Journal of Medical Genetics, Part A, Vol. 146, No. 16, 15.08.2008, p. 2130-2133.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Radiological evolution in IMAGe association
T2 - A case report
AU - Amano, Naoko
AU - Naoaki, Hori
AU - Ishii, Tomohiro
AU - Narumi, Satoshi
AU - Hachiya, Rumi
AU - Nishiniura, Gen
AU - Hasegawa, Tomonobu
PY - 2008/8/15
Y1 - 2008/8/15
N2 - 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.
AB - 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.
KW - Adrenal hypoplasia congenita
KW - IMAGe association
KW - Metaphyseal dysplasia
UR - http://www.scopus.com/inward/record.url?scp=49449094306&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=49449094306&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32425
DO - 10.1002/ajmg.a.32425
M3 - Article
C2 - 18627061
AN - SCOPUS:49449094306
VL - 146
SP - 2130
EP - 2133
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4868
IS - 16
ER -