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Newborn with Anophthalmia and Features of Fryns Syndrome

We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings...

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Publicat a:Pediatr Dev Pathol
Autors principals: Pierson, Diane M., Subtil, Antonio, Taboada, Eugenio, Butler, Merlin G.
Format: Artigo
Idioma:Inglês
Publicat: 2002
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6800080/
https://ncbi.nlm.nih.gov/pubmed/12375132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10024-002-2106-2
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