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Ophthalmo-acromelic syndrome
M Le Merrer1, C Nessmann, M L Briard
1Clinique et Unité de Recherches et Génétique Médicale INSERM U.12, Hôpital des Enfants Malades, Paris.
Annales De Genetique
|January 1, 1988
Abstract:
We report two sibships with children who had anophthalmia, multiple limb abnormalities, and consanguineous parents. The same association of malformations has already been reported. These further observations allow a better delineation of the syndrome and confirm its autosomal recessive mode of inheritance. We propose to name the syndrome ophthalmo-acromelic.