Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis
- 1 July 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 27 (3), 683-686
- https://doi.org/10.1002/ajmg.1320270322
Abstract
A patient with Waardenburg syndrome type II associated with Hirschsprung megacolon and Marcus Gunn ptosis is presented. It is suggested that these different anomalies are manifestations of the same neurocrestopathy.This publication has 9 references indexed in Scilit:
- Waardenburg syndrome—penetrance of major signsAmerican Journal of Medical Genetics, 1983
- Waardenburg's Syndrome and Hirschsprung's Disease in the same PatientClinical Genetics, 1980
- Waardenburg syndrome — two distinct typesAmerican Journal of Medical Genetics, 1980
- The association of Waardenburg syndrome and Hirschsprung megacolonAmerican Journal of Medical Genetics, 1979
- Waardenburg syndrome with a fixed dilated pupil.British Journal of Ophthalmology, 1978
- The neurocristopathiesA unifying concept of disease arising in neural crest maldevelopmentHuman Pathology, 1974
- Pigmentary disorders in association with congenital deafnessArchives of Dermatology, 1967
- A NEW SYNDROME COMBINING DEVELOPMENTAL ANOMALIES OF THE EYELIDS, EYEBROWS AND NOSE ROOT WITH PIGMENTARY DEFECTS OF THE IRIS AND HEAD HAIR AND WITH CONGENITAL DEAFNESS - DYSTOPIA-CANTHI MEDIALIS ET PUNCTORUM LACRIMALIUM LATEROVERSA, HYPERPLASIA SUPERCILII MEDIALIS ET RADICIS NASI, HETEROCHROMIA IRIDUM TOTALIS SIVE PARTIALIS, ALBINISMUS CIRCUMSCRIPTUS (LEUCISMUS, POLIOSIS), ET SURDITAS CONGENITA (SURDIMUTITAS)1951