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The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.
Am J Med Genet. 1999 Dec 22; 87(5):430-3.AJ

Abstract

We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.

Authors+Show Affiliations

Consultation de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

10594883

Citation

Walter-Nicolet, E, et al. "The Richieri-Costa and Pereira Form of Acrofacial Dysostosis: First Case in a non-Brazilian Infant." American Journal of Medical Genetics, vol. 87, no. 5, 1999, pp. 430-3.
Walter-Nicolet E, Coëslier A, Joriot S, et al. The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. Am J Med Genet. 1999;87(5):430-3.
Walter-Nicolet, E., Coëslier, A., Joriot, S., Kacet, N., Moerman, A., & Manouvrier-Hanu, S. (1999). The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. American Journal of Medical Genetics, 87(5), 430-3.
Walter-Nicolet E, et al. The Richieri-Costa and Pereira Form of Acrofacial Dysostosis: First Case in a non-Brazilian Infant. Am J Med Genet. 1999 Dec 22;87(5):430-3. PubMed PMID: 10594883.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. AU - Walter-Nicolet,E, AU - Coëslier,A, AU - Joriot,S, AU - Kacet,N, AU - Moerman,A, AU - Manouvrier-Hanu,S, PY - 1999/12/14/pubmed PY - 2000/3/11/medline PY - 1999/12/14/entrez SP - 430 EP - 3 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 87 IS - 5 N2 - We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10594883/The_Richieri_Costa_and_Pereira_form_of_acrofacial_dysostosis:_first_case_in_a_non_Brazilian_infant_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1999&volume=87&issue=5&spage=430 DB - PRIME DP - Unbound Medicine ER -