Rethoré M O, Junien C, Aurias A, Couturier J, Dutrillaux B, Kaplan J C, Lejeune J
Ann Genet. 1980;23(1):35-9.
An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.
