title: 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.affiliation: Kocaeli University Faculty of Medicine, Department of Pediatric Endocrinology, Kocaeli, Turkey. E-ma-il: elozdr@gmail.com.
authors.forename: Elif
authors.initials: E
authors.lastname: Özsu
authors.forename: Rahime Gül
authors.initials: RG
authors.lastname: Yeşiltepe Mutlu
authors.forename: Olcay
authors.initials: O
authors.lastname: Işık
authors.forename: Filiz Mine
authors.initials: FM
authors.lastname: Çizmecioğlu
authors.forename: Şükrü
authors.initials: Ş
authors.lastname: Hatun
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis*; D003241:Consanguinity; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis*; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D014564:Urogenital Abnormalities / Q000175:diagnosis*