A survey of phenotypic features in juvenile polyposis

• Published in: Journal of medical genetics Vol. 35; no. 6; pp. 476 - 481
• Main Authors: Desai, D C, Murday, V, Phillips, R K, Neale, K F, Milla, P, Hodgson, S V
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.06.1998; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Aged; Biological and medical sciences; Child; Child, Preschool; Congenital Abnormalities - genetics; Female; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Intestinal Polyps - complications; Intestinal Polyps - genetics; Male; Medical sciences; Middle Aged; Neoplasms, Second Primary - genetics; Other diseases. Semiology; Phenotype; Polyps - complications; Polyps - genetics; Skin Diseases - complications; Skin Diseases - genetics; Skin Neoplasms - genetics; Stomach Neoplasms - complications; Stomach Neoplasms - genetics; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Human; Clinical form; Exploration; Juvenile polyposis; Polyposis; Genetic disease; Phenotype; Etiology; Digestive diseases; Intestinal disease; Benign neoplasm; Colon; Diagnosis

Solitary juvenile polyps are quite frequent in children, but juvenile polyposis (JP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracolonic phenotypic abnormalities are well documented in patients with familial adenomatous po...