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Clin Dysmorphol. 2005 Apr;14(2):85-7.

A new case of Okamoto syndrome.

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  • 1Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey, USA. rwallerstein@humed.com


We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.

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