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Anencephaly with holoprosencephalic facies due to ring chromosome 18
L M Bird1, D H Pretorius, A E Mendoza
1Children's Hospital, Division of Dysmorphology/Genetics, San Diego, CA, USA. Lynnembird@aol.com
Insights
This study reports the first case of an anencephalic infant with holoprosencephalic facies and a ring chromosome 18. This finding suggests karyotype analysis is important for anencephaly with holoprosencephalic facies.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Anencephaly and holoprosencephalic facies are known congenital anomalies.
- Ring chromosome 18 [r(18)] is a rare chromosomal abnormality.
Observation:
- A case report of an infant presenting with anencephaly, holoprosencephalic facies, and r(18) is detailed.
- This represents the first documented instance of this specific combination of anomalies.
Findings:
- The co-occurrence of anencephaly, holoprosencephalic facies, and r(18) is reported.
- Literature review suggests this association may not be coincidental, highlighting a potential link between r(18) and these developmental defects.
Implications:
- Karyotype analysis is recommended for infants diagnosed with anencephaly and holoprosencephalic facies.
- Further research into the genetic underpinnings of r(18) may elucidate its role in craniofacial and neural tube development.
Abstract:
An anencephalic infant with holoprosencephalic facies and ring chromosome 18 [r(18)] is reported with review of the pertinent literature. Although the association of anencephaly and holoprosencephalic facies is well established, this is the first instance of an accompanying karyotypic abnormality. Review of other r(18) cases suggests that this is not a coincidental finding. Karyotype analysis appears warranted in cases of anencephaly with holoprosencephalic facies.