Familial CHARGE Syndrome: Clinical Report with Autopsy Findings

Leon A. Metlay; Peter S. Smythe; Marvin E. Miller; John M. Opitz; James F. Reynolds

doi:10.1002/ajmg.1320260311

Familial CHARGE Syndrome: Clinical Report with Autopsy Findings

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

Wright State University

Research output: Contribution to journal › Article › peer-review

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.

Original language	American English
Journal	American Journal of Medical Genetics
Volume	26
DOIs	https://doi.org/10.1002/ajmg.1320260311
State	Published - Mar 1 1987

Keywords

CHARGE Association
Choanal Artesia
Coloboma
Congenital Heart Disease
Dominant
Genital Hypoplasia
Parachute Mitral Valve

Disciplines

Medical Specialties
Medicine and Health Sciences
Pediatrics

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10.1002/ajmg.1320260311License: Unspecified

Cite this

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title = "Familial CHARGE Syndrome: Clinical Report with Autopsy Findings",

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.",

keywords = "CHARGE Association, Choanal Artesia, Coloboma, Congenital Heart Disease, Dominant, Genital Hypoplasia, Parachute Mitral Valve",

author = "Metlay, {Leon A.} and Smythe, {Peter S.} and Miller, {Marvin E.} and Opitz, {John M.} and Reynolds, {James F.}",

year = "1987",

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doi = "10.1002/ajmg.1320260311",

language = "American English",

volume = "26",

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T1 - Familial CHARGE Syndrome: Clinical Report with Autopsy Findings

AU - Metlay, Leon A.

AU - Smythe, Peter S.

AU - Miller, Marvin E.

AU - Opitz, John M.

AU - Reynolds, James F.

PY - 1987/3/1

Y1 - 1987/3/1

N2 - 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.

AB - 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.

KW - CHARGE Association

KW - Choanal Artesia

KW - Coloboma

KW - Congenital Heart Disease

KW - Dominant

KW - Genital Hypoplasia

KW - Parachute Mitral Valve

UR - https://corescholar.libraries.wright.edu/pediatrics/22

U2 - 10.1002/ajmg.1320260311

DO - 10.1002/ajmg.1320260311

M3 - Article

VL - 26

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

ER -

Familial CHARGE Syndrome: Clinical Report with Autopsy Findings

Abstract

Keywords

Disciplines

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