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Article

VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?

American journal of medical genetics - 1 Aug 1992

Orstavik K H, Steen-Johnsen J, Foerster A, Fjeld T, Skullerud K, Lie S O

Abstract excerpt

We report on a female infant with lethal congenital malformations 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 VACTERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations...

Topics

Abnormalities, Multiple
Adult
Female
Genes, Dominant
Humans
Hydrocephalus
Infant, Newborn
Male
Mosaicism
Phenotype
Spina Bifida Occulta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spine

Syndrome

Source

Identifiers

PMID: 1415331
DOI: 10.1002/ajmg.1320430625

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1415331-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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