<b>Abstract</b> We present a case of IMAGe syndrome in a newborn patient and review the associated abnormalities with emphasis on the radiologic findings. IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenital (AHC) and genitourinary abnormalities. Image syndrome is caused by a CDKN1C mutation only if the mutation is present on a maternally inherited copy of the gene. The clinical features of AHC and IUGR with or without a family history of IMAGe syndrome are highly suggestive of the diagnosis. The skeletal findings may include metaphyseal and/or epiphyseal dysplasia, osteopenia, gracile long bones, mesomelia, and delayed bone age. Genital abnormalities are common in males and include unilateral or bilateral cryptorchidism and hypospadias. Facial features include mild frontal bossing, flat or broad nasal bridge, and small or low set ears. A Caucasian male was born at 38 weeks gestation to nonconsanguineous healthy parents. Prenatal ultrasound imaging demonstrated IUGR. The infant was small for gestational age with a birth weight of 2390 grams (4.5 percentile). On clinical exam, the patient demonstrated simian creases, hypospadias, and undescended testicles. Phenotypically, the patient demonstrated findings more severe than hypochondroplasia but less prominent than achondroplasia. Facial features included micrognatia, a high-arched palate, and mild frontal bossing. The skeletal findings on imaging consisted of thin gracile ribs, markedly delayed bone maturation, and irregular distal femoral metaphyseal margins. The distal femoral metaphyses also demonstrated a celery stalk appearance. Pelvic findings included triangular ischia, unossified pubic bones, and irregular acetabular roofs. The case is particularly unique in that the patient also presented with rhizomelia of the bilateral humeri; a finding which has not been previously described with IMAGe syndrome to the authors’ knowledge. The patient experienced episodes of hyponatremia, hyperkalemia, and decreased cortisol levels consistent with primary adrenal insufficiency. Genetic testing detected a mutation in the CDKN1C gene. The patient’s mother was detected to carry the same mutation, thereby confirming the inheritance pattern and confirming the diagnosis of IMAGe syndrome in the patient. IMAGe syndrome is rare. Only 25 individuals with a clinical and/or molecular diagnosis have been reported to date.
IPR 2016 Conjoint Meeting & Exhibition