Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications

We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nost...

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Veröffentlicht in:Journal of medical genetics 1998-05, Vol.35 (5), p.435-437
Hauptverfasser: Pallotta, R, Fusilli, P
Format: Artikel
Sprache:eng
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Zusammenfassung:We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.35.5.435