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Miller syndrome (postaxial acrofacial dysostosis; genee-wiedemann syndrome)


Miller Syndrome (Postaxial Acrofacial Dysostosis; Genee-Wiedemann Syndrome)

General: Cause unknown; sporadic and fa 222j96c milial cases known as Genee-Wiedemann Syndrome.

Ocular: Ectropion.

Clinical: Malar hypoplasia; cleft palate and lip; postaxial limb deficiency; cup-shaped ears.

Chrzanowska KH, et al. Phenotype variability in the Miller acrofacial dysostosis syndrome: report of two further patients. Clin Genet 1989; 35:157-l60.

Genee E. Une forme extensive de dysostose mandibulo-faciale. J Genet Hum

Miller M, Fineman R, Smith DW. Postaxial acrofacial dysostosis syndrome. J Pediatr 1979; 95:970-975.

Wiedemann HR. Missbildungs-Retardierungs-Syndrom mit Fehlen des 5 Strahls an Haenden and Fuessen, Gaumenspalte, dysplastischen Ohren und Augenlidem und radioulnarer Synostose. Klin Paediatr 1973; 185: 181-l86.




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