Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15

A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed...

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Veröffentlicht in:European journal of pediatrics 1984-08, Vol.142 (3), p.229-231
Hauptverfasser: OTTO, J, BACK, E, FÜRSTE, H. O, ABEL, M, BÖHM, N, PRINGSHEIM, W
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container_end_page 231
container_issue 3
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container_title European journal of pediatrics
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creator OTTO, J
BACK, E
FÜRSTE, H. O
ABEL, M
BÖHM, N
PRINGSHEIM, W
description A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.
doi_str_mv 10.1007/BF00442457
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source MEDLINE; SpringerLink Journals - AutoHoldings
subjects Abnormalities, Multiple - diagnosis
Biological and medical sciences
Chromosome aberrations
Chromosome Aberrations - diagnosis
Chromosome Disorders
Chromosomes, Human, 13-15
Female
Growth Disorders - diagnosis
Heart Septal Defects, Ventricular - diagnosis
Humans
Infant
Intestines - abnormalities
Medical genetics
Medical sciences
title Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15
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