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 nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.
Pallotta
R
R
Centre for Diagnosis, Prevention and Care of Birth Defects in Children, Department of Medicine, D'Annunzio University, Chieti, Italy.
Fusilli
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D000848:Anodontia; D001927:Brain Diseases / Q000473:pathology; D002114:Calcinosis / Q000473:pathology*; D002831:Choroid Plexus / Q000473:pathology*; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014430:Twins, Monozygotic