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Schaaf-Yang syndrome is a genetic disorder characterized by delayed psychomotor development, hypotonia, intellectual disability, feeding difficulties, and variable dysmorphic facial features. It is an extremely rare disorder with over 250 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal dominant pattern. We present colon transit scintigraphy of a 6-year-old boy with history of chronic constipation with poor response to medical treatment, clinical characteristics, and gene mutations consistent with this syndrome. After oral administration of 111In-DTPA, planar and SPECT/CT images showed rapid proximal colonic transit and anorectal retention.
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