Familial bilateral blepharoptosis and subvalvular aortic stenosis.
A boy and his mother with bilateral congenital blepharoptosis, downslanting palpebral fissures, hypertelorism, microcephaly, short nose with flattened nasal root, microstomia, prominent lateral palatine ridges, bifid (boy) hypoplastic (mother) uvula, generalized dental caries, short neck, peculiar voice and mild conductive deafness are reported. The boy had subvalvular aortic stenosis. The mother had pectus excavatum but not any signs or symptoms of cardiovascular defect.
Bazopoulou-Kyrkanidou
E
E
Department of Oral Pathology and Surgery, Faculty of Dentistry, University of Athens, Greece.
Neou
P
P
Bartsocas
C S
CS
Kyrkanides
S
S
Fanourakis
I
I
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001020:Aortic Stenosis, Subvalvular / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D005260:Female; D005660:Funnel Chest / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D014071:Tooth Abnormalities / Q000235:genetics