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Title: Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

Abstract

A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. 43 refs., 2 figs., 2 tabs.

Authors:
; ; ; ;  [1]
  1. Univ. of California, San Diego, CA (United States)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
61985
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 53; Journal Issue: 2; Other Information: PBD: 1 Nov 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; INFANTS; HEREDITARY DISEASES; CONGENITAL MALFORMATIONS; SKIN DISEASES; CARDIOVASCULAR DISEASES

Citation Formats

Bird, L M, Krous, H F, Eichenfield, L F, Swalwell, C I, and Jones, M C. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320530205.
Bird, L M, Krous, H F, Eichenfield, L F, Swalwell, C I, & Jones, M C. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?. United States. https://doi.org/10.1002/ajmg.1320530205
Bird, L M, Krous, H F, Eichenfield, L F, Swalwell, C I, and Jones, M C. 1994. "Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?". United States. https://doi.org/10.1002/ajmg.1320530205.
@article{osti_61985,
title = {Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?},
author = {Bird, L M and Krous, H F and Eichenfield, L F and Swalwell, C I and Jones, M C},
abstractNote = {A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. 43 refs., 2 figs., 2 tabs.},
doi = {10.1002/ajmg.1320530205},
url = {https://www.osti.gov/biblio/61985}, journal = {American Journal of Medical Genetics},
number = 2,
volume = 53,
place = {United States},
year = {Tue Nov 01 00:00:00 EST 1994},
month = {Tue Nov 01 00:00:00 EST 1994}
}