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Multiple malformations: a possible Sonic hedgehog phenotype?
Helen Wainwright1, Peter Beighton
1Division of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, 7925, Cape Town, South Africa.
Virchows Archiv : an International Journal of Pathology
|February 12, 2009
Summary
A severely malformed fetus exhibited craniofacial, midline, and limb defects, alongside obstructive hydrocephalus and colonic atresia. These findings suggest potential disruption of the Sonic hedgehog pathway during development.
Area of Science:
- Developmental biology
- Human genetics
- Teratology
Background:
- Congenital malformations present complex diagnostic challenges.
- Understanding genetic pathways is crucial for identifying causes of developmental abnormalities.
Observation:
- A fetus at 21-week gestation displayed severe craniofacial, midline, and limb malformations.
- Autopsy revealed obstructive hydrocephalus and colonic atresia.
- Radiographs showed extensive epiphyseal stippling, suggesting potential sterol synthesis issues.
Findings:
- The observed malformation pattern closely resembles phenotypes associated with Sonic hedgehog (SHH) gene mutations in animal models.
- Epiphyseal stippling may indicate underlying sterol synthesis pathway dysfunction.
Implications:
- Disruption of the Sonic hedgehog pathway could be a key factor in this fetus's severe malformations.
- Potential causative factors include molecular, chromosomal, or environmental influences impacting the SHH pathway.
- This case highlights the importance of the SHH pathway in human embryonic development and the etiology of congenital anomalies.
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