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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.
Insights
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.
Abstract:
We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/3), and cardiac abnormalities (1/3). X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked VACTERL-H syndrome. In addition, one maternal female cousin had a severe tracheo-esophageal fistula. This may represent partial manifestation in a female carrier. Chromosomes were apparently normal (46XY) with no spontaneous or excess induced breakages in one of the affected offspring and his mother. In the absence of a genetic marker, diagnostic ultrasonography is the investigation of choice for early in utero detection of this syndrome. A confident ultrasonographic diagnosis was possible by 20 weeks in the 2 cases examined.