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The myelination was normal for his age. Some intriguing considerations about a possible genotype-phenotype correlation can be drawn. He had mild hypertelorism, flattened nasal bridge, slightly pronounced chin, inverted right nipple, small penis, small hands and mild generalized hypotonia. A moderate ventriculomegaly with predominant expansion of the posterior segments and slight asymmetry was found. Contact us Submission enquiries: Access here and click Contact Us General enquiries: info biomedcentral. DM and FB drafted the manuscript. Clinical features include characteristic facial appearance, intellectual disability, hypogonadism, severe speech delay, multiple skeletal anomalies, and cardiac defects [ 1 , 3 ]. KS variants may present different features, medical problems and complications. Considering this cytogenetic result and according to the literature, an X-ray examination of arms was performed and this ruled out radioulnar synostosis.

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