Article
Familial bilateral blepharoptosis and subvalvular aortic stenosis.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1995
Bazopoulou-Kyrkanidou E, Neou P, Bartsocas C S, Kyrkanides S, Fanourakis I
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
