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Richieri‐Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases

22 Dec 2010

Abstract excerpt

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri-Costa-Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central...

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PMID: 21271648
DOI: 10.1002/ajmg.a.33806

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