Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

• Published in: Journal of medical genetics Vol. 31; no. 4; pp. 331 - 333
• Main Authors: Yorifuji, T, Matsumura, M, Okuno, T, Shimizu, K, Sonomura, T, Muroi, J, Kuno, C, Takahashi, Y
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.04.1994; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - genetics; Adult; Biological and medical sciences; Complex syndromes; Diabetes Mellitus, Type 1 - complications; Diabetes Mellitus, Type 1 - genetics; Encephalitis - complications; Encephalitis - microbiology; Fatal Outcome; Female; Heart Defects, Congenital - complications; Heart Defects, Congenital - genetics; Humans; Infant; Infant, Newborn; Male; Medical genetics; Medical sciences; Mucormycosis - complications; Pancreas - abnormalities; Pedigree; Syndrome; Asia; Japan; Endocrinopathy; Human; Hypoplasia; Congenital; Family study; Diabetes mellitus; Cardiovascular disease; Congenital disease; Genetic disease; Association; Autosomal character; Heart disease; Digestive diseases; Dominant character; Mechanism of action; Complex syndrome; Pancreas; Pancreatic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.31.4.331

We report on a Japanese family with hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease. The disease was apparently inherited as an autosomal dominant trait. The patients in this family had no major anomalies other than those of the heart and pancreas. To our knowledge, this combination has not previously been reported.