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VACTERL with hydrocephalus: family with X-linked VACTERL-H
F E Lomas1, J E Dahlstrom, J H Ford
1The John Curtin School of Medical Research, Australian National University, Canberra.
American Journal of Medical Genetics
|March 21, 1998
Summary
This study identifies X-linked VACTERL-H syndrome in a five-generation family with affected males exhibiting hydrocephalus and radial ray defects. Early in utero detection is possible via diagnostic ultrasonography.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- VACTERL-H syndrome is a rare, complex disorder with multiple congenital anomalies.
- X-linked inheritance patterns are suspected but require further elucidation.
- Understanding the genetic basis and phenotypic spectrum is crucial for diagnosis and management.
Purpose of the Study:
- To characterize a novel family with suspected X-linked VACTERL-H syndrome.
- To investigate the inheritance pattern and clinical manifestations within the family.
- To evaluate diagnostic methods for early in utero detection.
Main Methods:
- Detailed clinical examination of affected individuals across five generations.
- Review of medical records and family history.
- Diagnostic ultrasonography for prenatal assessment.
Main Results:
- Four affected males presented with hydrocephalus, radial ray abnormalities, renal, anal, and genital anomalies.
- X-linked inheritance was strongly suggested by the family's pedigree.
- Ultrasonography provided confident in utero diagnosis by 20 weeks gestation in two cases.
Conclusions:
- The described family exhibits characteristics consistent with X-linked VACTERL-H syndrome.
- Diagnostic ultrasonography is a valuable tool for early prenatal detection.
- Further research is needed to identify the specific genetic mutation responsible for this X-linked disorder.