VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: A case of gonosomal mosaicism?
✍ Scribed by Örstavik, Karen Helene ;Steen-Johnsen, Jon ;Foerster, Arnold ;Fjeld, Tore ;Skullerud, Kari ;Lie, Sverre O.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 452 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
We report on a female infant with lethal congenital amalformations including extreme hydrocephalus due to aqueductal stenosis, vertebral segmentation anomalies, fused costae, anal atresia, renal dysplasia, and bicornuate uterus with a double blind vagina. The VAC‐TERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations as his daughter but is otherwise healthy. The possibility of dominant inheritance with gonosomal mosaicism in the father is discussed. © 1992 Wiley‐Liss, Inc.