Abstract
A patient with oculodentodigital dysplasia (ODDD) syndrome was evaluated because of complaints of intermittent diarrhea of many years duration. Gastrointestinal manifestations have not been routinely described in patients with ODDD, which is a hereditary disorder characterized by abnormal eye findings, defective tooth enamel, various phalangeal aberrations, a distinctive facial appearance, and skeletal dysplasias. Steatorrhea was documented, but the usual methods for investigating this were thwarted by the patient's abnormal gastric anatomy and poor gastric motility. A combined endoscopic-fluoroscopic, guidewire-directed intubation procedure was performed to permit study of the small bowel. Pancreatic function was normal, and culture of an aspirate from the jejunum revealed a mixed bacterial flora. Treatment for presumed small bowel bacterial overgrowth with antibiotics and a reduced fat diet brought relief of diarrheal symptoms and produced weight gain. The clinical approach to this particular patient and the relationship between the ODDD syndrome and the described gastrointestinal anomalies are discussed.
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