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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Sprache:eng
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Zusammenfassung: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00442457