Tags

Type your tag names separated by a space and hit enter

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.
Am J Med Genet A. 2011 Feb; 155A(2):322-31.AJ

Abstract

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 lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex-ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named "Vale do Ribeira." The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown.

Authors+Show Affiliations

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP), Bauru, SP, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

21271648

Citation

Favaro, Francine Pinheiro, et al. "Richieri-Costa-Pereira Syndrome: a Unique Acrofacial Dysostosis Type. an Overview of the Brazilian Cases." American Journal of Medical Genetics. Part A, vol. 155A, no. 2, 2011, pp. 322-31.
Favaro FP, Zechi-Ceide RM, Alvarez CW, et al. Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. Am J Med Genet A. 2011;155A(2):322-31.
Favaro, F. P., Zechi-Ceide, R. M., Alvarez, C. W., Maximino, L. P., Antunes, L. F., Richieri-Costa, A., & Guion-Almeida, M. L. (2011). Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. American Journal of Medical Genetics. Part A, 155A(2), 322-31. https://doi.org/10.1002/ajmg.a.33806
Favaro FP, et al. Richieri-Costa-Pereira Syndrome: a Unique Acrofacial Dysostosis Type. an Overview of the Brazilian Cases. Am J Med Genet A. 2011;155A(2):322-31. PubMed PMID: 21271648.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. AU - Favaro,Francine Pinheiro, AU - Zechi-Ceide,Roseli Maria, AU - Alvarez,Camila Wenceslau, AU - Maximino,Luciana P, AU - Antunes,Luis Fernando B B, AU - Richieri-Costa,Antonio, AU - Guion-Almeida,Maria Leine, Y1 - 2010/12/22/ PY - 2010/08/31/received PY - 2010/09/26/accepted PY - 2011/1/29/entrez PY - 2011/1/29/pubmed PY - 2011/5/21/medline SP - 322 EP - 31 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 155A IS - 2 N2 - 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 lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex-ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named "Vale do Ribeira." The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21271648/Richieri_Costa_Pereira_syndrome:_a_unique_acrofacial_dysostosis_type__An_overview_of_the_Brazilian_cases_ L2 - https://doi.org/10.1002/ajmg.a.33806 DB - PRIME DP - Unbound Medicine ER -