IMAGe syndrome

IMAGe syndrome is characterized by the association of <i>I</i>ntrauterine growth retardation, <i>M</i>etaphyseal dysplasia (and short limbs), <i>A</i>drenal hypoplasia congenita, and <i>Ge</i>nital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").


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PMID (PMCID)
24313804
 MIXED_SAMPLE Child
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.
Clin Endocrinol (Oxf). 2014;80(5):706-13.
Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3.