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Richieri-costa and Pereira syndrome: severe phenotype.
Am J Med Genet A. 2013 Aug; 161A(8):1999-2003.AJ

Abstract

Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported.

Authors+Show Affiliations

Clinical Geneticist, Hospital Pequeno Príncipe, Curitiba, Brazil. genetika@genetika.com.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23794199

Citation

Raskin, Salmo, et al. "Richieri-costa and Pereira Syndrome: Severe Phenotype." American Journal of Medical Genetics. Part A, vol. 161A, no. 8, 2013, pp. 1999-2003.
Raskin S, Souza M, Medeiros MC, et al. Richieri-costa and Pereira syndrome: severe phenotype. Am J Med Genet A. 2013;161A(8):1999-2003.
Raskin, S., Souza, M., Medeiros, M. C., Manfron, M., & Chong E Silva, D. C. (2013). Richieri-costa and Pereira syndrome: severe phenotype. American Journal of Medical Genetics. Part A, 161A(8), 1999-2003. https://doi.org/10.1002/ajmg.a.35989
Raskin S, et al. Richieri-costa and Pereira Syndrome: Severe Phenotype. Am J Med Genet A. 2013;161A(8):1999-2003. PubMed PMID: 23794199.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Richieri-costa and Pereira syndrome: severe phenotype. AU - Raskin,Salmo, AU - Souza,Marcela, AU - Medeiros,Mariana C, AU - Manfron,Mayra, AU - Chong E Silva,Debora C, Y1 - 2013/06/21/ PY - 2012/10/10/received PY - 2013/03/28/accepted PY - 2013/6/25/entrez PY - 2013/6/25/pubmed PY - 2013/10/18/medline KW - Richieri-Costa and Pereira syndrome KW - oral cleft KW - severe phenotype SP - 1999 EP - 2003 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 161A IS - 8 N2 - Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23794199/Richieri_costa_and_Pereira_syndrome:_severe_phenotype_ L2 - https://doi.org/10.1002/ajmg.a.35989 DB - PRIME DP - Unbound Medicine ER -