Dominant ano‐rectal malfromatin, nephritis and nerve‐deafness: a possible new entity?
- 1 September 1983
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 24 (3) , 191-193
- https://doi.org/10.1111/j.1399-0004.1983.tb02238.x
Abstract
A family is presented in which ano-rectal malformation and features common to Alport Syndrome appear to be present in 3 generations. The possibility of a new syndrome based on a single gene defect is discussed.Keywords
This publication has 7 references indexed in Scilit:
- Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafnessThe Journal of Pediatrics, 1982
- Surgical experience in infants with the VATER associationJournal of Pediatric Surgery, 1980
- Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformationsThe Journal of Pediatrics, 1978
- The syndromology of anorectal malformation (atresia, stenosis, ectopia)American Journal of Medical Genetics, 1978
- Familial anal abnormalityThe Journal of Pediatrics, 1976
- Congenital familial anorectal anomalyThe American Journal of Surgery, 1973
- Hereditary syndrome of imperforate anus with hand, foot, and ear anomaliesThe Journal of Pediatrics, 1972