IMAGe Anomaly

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Tang, P. IMAGe Anomaly. Encyclopedia. Available online: https://encyclopedia.pub/entry/6059 (accessed on 20 September 2026).

Tang P. IMAGe Anomaly. Encyclopedia. Available at: https://encyclopedia.pub/entry/6059. Accessed September 20, 2026.

Tang, Peter. "IMAGe Anomaly" Encyclopedia, https://encyclopedia.pub/entry/6059 (accessed September 20, 2026).

Tang, P. (2021, January 04). IMAGe Anomaly. In Encyclopedia. https://encyclopedia.pub/entry/6059

Tang, Peter. "IMAGe Anomaly." Encyclopedia. Web. 04 January, 2021.

IMAGe Anomaly

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/intrauterine-growth-restriction-metaphyseal-dysplasia-adrenal-hypoplasia-congenita-and-genital-anomalies

The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body.

genetic conditions

References

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, DélotEC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF,Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi:10.1038/ng.2275.
Balasubramanian M, Sprigg A, Johnson DS. IMAGe syndrome: Case report with apreviously unreported feature and review of published literature. Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716. Review.
Bergadá I, Del Rey G, Lapunzina P, Bergadá C, Fellous M, Copelli S. Familialoccurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab. 2005 Jun;90(6):3186-90.
Lienhardt A, Mas JC, Kalifa G, Chaussain JL, Tauber M. IMAGe association:additional clinical features and evidence for recessive autosomal inheritance.Horm Res. 2002;57 Suppl 2:71-8.
Pedreira CC, Savarirayan R, Zacharin MR. IMAGe syndrome: a complex disorderaffecting growth, adrenal and gonadal function, and skeletal development. JPediatr. 2004 Feb;144(2):274-7.
Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. Twosisters with IMAGe syndrome: cytomegalic adrenal histopathology, support forautosomal recessive inheritance and literature review. Am J Med Genet A. 2006 Aug15;140(16):1778-84.
Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabeER. IMAGe, a new clinical association of intrauterine growth retardation,metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. JClin Endocrinol Metab. 1999 Dec;84(12):4335-40. Review.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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