CATARACTS, RADICULOMEGALY, SEPTAL HEART-DEFECTS AND HEARING-LOSS IN 2UNRELATED ADULT FEMALES WITH NORMAL INTELLIGENCE AND SIMILAR FACIAL APPEARANCE - CONFIRMATION OF A SYNDROME

Two unrelated, adult females with normal intelligence are described. T hey show a similar clinical picture with a long and narrow face, conge nital cataract, microphthalmia, microcornea, a high nasal bridge, a sh ort nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2 nd-3rd toes. Abnormalities present in only one of the two patients wer e a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family desc ribed by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all ma y be examples of the same entity.