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

• Published in: American journal of medical genetics. Part A Vol. 155A; no. 2; pp. 322 - 331
• Main Authors: Favaro, Francine Pinheiro, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Maximino, Luciana P., Antunes, Luis Fernando B. B., Richieri-Costa, Antonio, Guion-Almeida, Maria Leine
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-02-2011; Wiley-Liss
• Subjects: autosomal recessive inheritance; Biological and medical sciences; Brazil - epidemiology; Cleft lip/palate; cleft mandible; Clubfoot - epidemiology; Clubfoot - genetics; Clubfoot - pathology; Consanguinity; Diseases of the osteoarticular system; Dysostosis; Ear; Female; Founder effect; Fundamental and applied biological sciences. Psychology; Genes, Recessive; Genetics of eukaryotes. Biological and molecular evolution; Hand Deformities, Congenital - epidemiology; Hand Deformities, Congenital - genetics; Hand Deformities, Congenital - pathology; Heredity; Hospitals; Human; Humans; Incisors; Learning; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Mandible; Medical genetics; Medical sciences; Mutation; Pedigree; Pierre Robin Syndrome - epidemiology; Pierre Robin Syndrome - genetics; Pierre Robin Syndrome - pathology; Population genetics, reproduction patterns; pre-axial limb anomalies; Rehabilitation; Reviews; Robin sequence; Sex Ratio; South America; Brazil; America; Mandible; Robin sequence; Stomatology; Diseases of the osteoarticular system; Inheritance; Pierre Robin syndrome; cleft mandible; Dysostosis; Congenital cleft; Review; Founder effect; Congenital disease; Genetic disease; Axial anomaly; Case study; Malformation; Autosomal character; Limb; Recessive character; autosomal recessive inheritance; pre-axial limb anomalies
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.33806

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. © 2010 Wiley‐Liss, Inc.