Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?

Abstract

IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity.

• Authors: Elif Özsu, Rahime Gül Yeşiltepe Mutlu, Olcay Işık, Filiz Mine Çizmecioğlu, Şükrü Hatun
• Journal: Journal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 6 Issue 4 Pg. 266-8 (Dec 2014) ISSN: 1308-5735 [Electronic] Turkey
• PMID: 25541901 (Publication Type: Case Reports, Journal Article)

Topics

• Adrenal Insufficiency (diagnosis)
• Consanguinity
• Female
• Fetal Growth Retardation (diagnosis)
• Humans
• Hyperpigmentation (diagnosis)
• Infant, Newborn
• Osteochondrodysplasias (diagnosis)
• Urogenital Abnormalities (diagnosis)