Ophthalmo-acromelic syndrome.
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.
Le Merrer
M
M
Clinique et Unité de Recherches et Génétique Médicale INSERM U.12, Hôpital des Enfants Malades, Paris.
Nessmann
C
C
Briard
M L
ML
Maroteaux
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005124:Eye Abnormalities; D006801:Humans; D017880:Limb Deformities, Congenital; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome