Abstract |
We document four patients, including two sibs, with asphyxiating thoracic dystrophy and mild congenital hydrocephalus. All infants were males; three had postaxial polydactyly. The CT scan of brain showed moderate dilatation of the lateral ventricles in all cases. This appears to be the first documentation of apparent hydrocephalus in this condition.
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Authors | M Singh, D Ray, V K Paul, A Kumar |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 29
Issue 2
Pg. 391-5
(Feb 1988)
ISSN: 0148-7299 [Print] United States |
PMID | 3354611
(Publication Type: Case Reports, Journal Article)
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Topics |
- Asphyxia
(genetics)
- Fingers
(abnormalities)
- Genes, Recessive
- Humans
- Hydrocephalus
(complications, diagnostic imaging)
- Male
- Respiratory Insufficiency
(complications)
- Syndrome
- Thorax
(abnormalities)
- Tomography, X-Ray Computed
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