Related Experiment Videos
Hydrocephalus in asphyxiating thoracic dystrophy
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
American Journal of Medical Genetics
|February 1, 1988
Insights
Asphyxiating thoracic dystrophy, a rare skeletal disorder, was observed with mild congenital hydrocephalus in four male infants. This study is the first to document hydrocephalus in patients with this condition.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Skeletal Dysplasias
Background:
- Asphyxiating thoracic dystrophy (ATD) is a severe skeletal dysplasia characterized by a narrow chest and limb abnormalities.
- Congenital hydrocephalus is a condition marked by excessive cerebrospinal fluid in the brain's ventricles.
- The co-occurrence of ATD and hydrocephalus has not been previously documented.
Observation:
- Four male infants diagnosed with asphyxiating thoracic dystrophy were studied.
- Two of the affected infants were siblings, suggesting a potential genetic link.
- Three of the four patients presented with postaxial polydactyly, a common feature in some skeletal dysplasias.
Findings:
- All four patients exhibited mild congenital hydrocephalus.
- Cerebral computed tomography (CT) scans revealed moderate dilatation of the lateral ventricles in every case.
- This represents the initial reported instance of hydrocephalus associated with asphyxiating thoracic dystrophy.
Implications:
- The findings suggest a possible syndromic association between asphyxiating thoracic dystrophy and congenital hydrocephalus.
- Further research is warranted to elucidate the underlying genetic or developmental mechanisms connecting these two conditions.
- This documentation may aid in refining diagnostic criteria and understanding the phenotypic spectrum of ATD.
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.