Related Experiment Videos
[Single maxillary central incisor and holoprosencephaly]
G Camera1, S Bovone, P Zucchinetti
1Centro di genetica umana, Ospedali Galliera, Genova.
Pathologica
|May 1, 1992
Summary
A single central maxillary incisor may indicate holoprosencephaly in offspring. This autosomal dominant trait shows variable expressivity and penetrance, offering new diagnostic insights.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Context:
- Holoprosencephaly (HPE) is a severe congenital brain malformation.
- A single central maxillary incisor is a rare dental anomaly.
- Genetic factors play a crucial role in HPE pathogenesis.
Purpose:
- To investigate the association between a single central maxillary incisor and holoprosencephaly.
- To explore the inheritance pattern of this potential HPE indicator.
- To provide further evidence for a specific autosomal dominant trait.
Summary:
- A female infant with microcephaly, hypotelorism, cebocephaly, palatoschisis, and micrognathia was born to a mother with a single central maxillary incisor.
- The infant was diagnosed with alobar holoprosencephaly via brain computed tomography.
- The mother and other relatives showed no HPE-related anomalies, suggesting variable penetrance and expressivity of the trait.
Impact:
- Highlights a potential early indicator for holoprosencephaly.
- Reinforces the understanding of autosomal dominant inheritance in HPE.
- May guide genetic counseling and early diagnostic interventions for families with this dental anomaly.