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.

Micromelia

The presence of abnormally small extremities.


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