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Single central maxillary incisor and holoprosencephaly.

H Hattori¹, T Okuno, T Momoi

¹Department of Pediatrics, Kyoto University Medical School, Japan.

American Journal of Medical Genetics

|October 1, 1987

Summary

A single central maxillary incisor in a mother may indicate a risk of holoprosencephaly in her child. This rare dental anomaly can be an early sign, even with normal family history.

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Area of Science:

Medical Genetics
Developmental Biology
Pediatric Neurology

Background:

Holoprosencephaly (HPE) is a severe congenital brain malformation.
Genetic and environmental factors contribute to HPE, but etiology is often unknown.
Facial anomalies can be associated with HPE, but specific dental markers are less understood.

Observation:

A child with semilobar holoprosencephaly and midline facial defects (median cleft lip, single nostril, hypotelorism) was born to a mother with a single central maxillary incisor.
The mother exhibited mild hypotelorism but had normal intelligence, stature, and brain imaging.
No other family members presented with the dental anomaly, hypotelorism, or oral clefts.

Findings:

The presence of a single central maxillary incisor in the mother was noted as a potential indicator for holoprosencephaly in her offspring.

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The infant's condition included semilobar holoprosencephaly, brachycephaly, and specific facial anomalies.

Chromosomal analysis of the infant was normal.

Implications:

A single central maxillary incisor may serve as a significant, albeit rare, clinical sign for predicting holoprosencephaly risk.
This finding highlights the importance of detailed oral examinations in identifying potential developmental abnormalities.
Further research is needed to determine if this association is due to new mutation or inheritance patterns.