TY - JOUR
T1 - BLEPHAROPTOSE BILATERALE FAMILIALE ET STENOSE AORTIQUE SOUS-VALVULAIRE
AU - Bazopoulou-Kyrkanidou, E.
AU - Neou, P.
AU - Bartsocas, C. S.
AU - Kyrkanides, S.
AU - Fanourakis, I.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
KW - Congenital blepharoptosis
KW - Dental caries
KW - Multiple abnormalities
KW - Subvalvular aortic stenosis
UR - https://www.scopus.com/pages/publications/0029022980
UR - https://www.scopus.com/pages/publications/0029022980#tab=citedBy
M3 - Article
C2 - 8588851
AN - SCOPUS:0029022980
SN - 1015-8146
VL - 6
SP - 227
EP - 232
JO - Genetic Counseling
JF - Genetic Counseling
IS - 3
ER -