Case report of Lohmann-Meyer-Schwickerth-Gruterich- Weyers` syndrome (okulo-dento-digital dysplasia)

    Abstract

    Case report of Lohmann-Meyer-Schwickerth-Gruterich- Weyers` syndrome (okulo-dento-digital dysplasia)

    R.F. Gainutdinova, R.F. Akhmetshin, R.A. Shamsutdinova

    Kazan State Medical University, Kazan
Republican Clinical Ophthalmology Hospital, Kazan
Republican Clinical Hospital, Kazan

    The case report of Lohmann-Meyer-Schwickerth-Gruterich-Weyers` syndrome (an okulo-dento-digital dysplasia) at the patient and her child is provided. The female patients we observed had 2 fingers in the upper and lower limbs, abnormal development of the facial skeleton, lack of sight, total retinal separation, optic nerve atrophy. The child’s pathology was diagnosed in the prenatal period. The patient refused from the proposed pregnancy termination. Hereditary nature of this disease in the presented clinical case report allows to conclude that prenatal diagnostics is recommended for identification of embryo pathology in the earliest stages of intrauterine development, as well as pregnancy termination is also recommended in early pregnancy as this pathology of sight organ and limbs is irreversible and is not treatable.

    Key words: okulo-dento-digital dysplasia, retinal detachment.