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

✍ Scribed by J. Otto; E. Back; H. O. Fürste; M. Abel; N. Böhm; W. Pringsheim


Book ID
104775867
Publisher
Springer
Year
1984
Tongue
English
Weight
935 KB
Volume
142
Category
Article
ISSN
0340-6997

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✦ Synopsis


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 preand 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.