Familial CHARGE Syndrome: Clinical Report with Autopsy Findings

Authors

Leon A. Metlay
Peter S. Smythe
Marvin E. Miller, Wright State UniversityFollow
John M. Opitz
James F. Reynolds

Document Type

Article

Publication Date

3-1987

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Abstract

We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.

Repository Citation

Metlay, L. A., Smythe, P. S., Miller, M. E., Opitz, J. M., & Reynolds, J. F. (1987). Familial CHARGE Syndrome: Clinical Report with Autopsy Findings. American Journal of Medical Genetics, 26 (3), 577-581.
https://corescholar.libraries.wright.edu/pediatrics/22

DOI

10.1002/ajmg.1320260311