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Dandy-Walker malformation in Ellis-van Creveld syndrome
K M Zangwill1, D K Boal, R L Ladda
1Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey, Pennsylvania.
American Journal of Medical Genetics
|September 1, 1988
Summary
Ellis-van Creveld (EvC) syndrome patients with Dandy-Walker malformation suggest a potential link between these rare conditions. Inbreeding within the Old Order Amish community may contribute to the co-occurrence of these genetic disorders.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatrics
Background:
- Ellis-van Creveld (EvC) syndrome is a rare genetic disorder characterized by skeletal dysplasia, ectodermal abnormalities, and congenital heart defects.
- Dandy-Walker malformation is a congenital brain malformation typically associated with hydrocephalus and developmental delay.
Observation:
- Two patients from an Old Order Amish community presented with both Ellis-van Creveld syndrome and Dandy-Walker malformation.
- Pedigree analysis revealed extensive inbreeding across successive generations within this isolated population.
- A similar co-occurrence of these conditions has been reported in existing medical literature.
Findings:
- The co-presentation of EvC syndrome and Dandy-Walker malformation in this cohort suggests a possible etiological link or shared genetic pathway.
- The high incidence in this inbred isolate raises the possibility that Dandy-Walker malformation could be a manifestation of EvC syndrome.
- Alternatively, the coincidental inheritance of two rare recessive traits within this isolated population cannot be ruled out.
Implications:
- Further research is warranted to elucidate the genetic basis and potential relationship between EvC syndrome and Dandy-Walker malformation.
- Understanding these genetic links can improve diagnostic accuracy and genetic counseling for affected families.
- This study highlights the importance of considering syndromic inheritance patterns in rare genetic disorders, especially within isolated populations.