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In addition, he had curly, light hair, and oval hypomelanotic patches in the abdomen, lower limbs and back and one hyperpigmented patch in the groin without acanthosis nigricans. Cranial three\u2010dimensional CT scan showed right\u2010coronal, sagittal, and lambdoid suture synostoses. His cranial MRI at 2\u2010months of age showed left hemimegalencephaly, hypoplasia of corpus callosum, and an abnormal configuration of hippocampus. In spite of these cranial findings, he had mild developmental delay and his neurological examination showed symmetric strength, tone and reflexes. Apart from febrile seizures, there was no history of epilepsy. The proband developed asymmetric hydrocephalus at the age of 18 months that required third ventriculostomy. Post\u2010operative cranial MRI showed Chiari I\u2010 like malformation and asymmetry of cerebral hemispheres but less dysplastic cerebral cortex. Mutation analysis of <jats:italic>FGFR3<\/jats:italic> showed a c.749C\u2009&gt;\u2009G, p.Pro250Arg substitution. To the best of our knowledge, these manifestations have not been reported in patients with Muenke syndrome. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33777","type":"journal-article","created":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T21:31:48Z","timestamp":1293571908000},"page":"207-214","source":"Crossref","is-referenced-by-count":21,"title":["Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype"],"prefix":"10.1002","volume":"155","author":[{"given":"Ghada M. 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