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

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 322-331

  Favaro, Francine Pinheiro ^a   Zechi Ceide, Roseli Maria ^a   Alvarez, Camila Wenceslau ^a   Maximino, Luciana P ^a   Antunes, Luis Fernando B B ^a   Richieri Costa, Antonio ^a   Guion Almeida, Maria Leine ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Autosomal recessive inheritance; Cleft mandible; Founder effect; Pre axial limb anomalies; Robin sequence

Indexed keywords

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE INHERITANCE; BRAZIL; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLUBFOOT; CONSANGUINITY; CRANIOFACIAL MALFORMATION; EAR MALFORMATION; FEMALE; FOUNDER EFFECT; GENE MUTATION; HUMAN; HYPODONTIA; INFANT; MALE; MICROGNATHIA; MICROSTOMIA; PHALANX HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; REVIEW; RICHIERI COSTA PEREIRA SYNDROME; SCHOOL CHILD;

BRAZIL; CLUBFOOT; FEMALE; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; PEDIGREE; PIERRE ROBIN SYNDROME; SEX RATIO;

PEREIRA;

EID: 79251500025     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33806     Document Type: Review

References (13)

1. De Renzi E, Vignolo LA. 1962. The Token test: A sensitive test to detect receptive disturbances in Aphasics. Brain 85: 665-678.
2. Golbert MB, Dewes LO, Philipsen VR, Wachholz RS, Deutschendorf C, Leite JC. 2007. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clin Dysmorphol 16: 85-88.
3. Graziadio C, Rosa RF, Zen PR, Flores JA, Paskulin GA. 2009. Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs. Am J Med Genet Part A 149A: 2886-2888.
4. Guion-Almeida ML, Richieri-Costa A. 1998. Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial limb anomalies, and clubfeet: Report of a patient with polydactyly of the halluces. Braz J Dysmorphol Speech Hear Disord 1: 27-30.
5. Kirk SA, McCarthy JJ, Kirk WD. 1968. Illinois Test of Psycholinguistic Abilities: Revised Edition. Urbana, IL: University of Illinois Press.
6. Lima RLLF, Moretti-Ferreira D, Richieri-Costa A, Murray JC. 2003. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. Am J Med Genet Part A 122A: 56-58.
7. Richieri-Costa A, Brandão-Almeida IL. 1997. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: Another affected Brazilian patient born to consanguineous parents. Am J Med Genet 71: 233-235.
8. Richieri-Costa A, Pereira SCS. 1992. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome. Am J Med Genet 42: 681-687.
9. Richieri-Costa A, Pereira SCS. 1993. Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients. Am J Med Genet 47: 707-709.
10. Tabith A, Bento-Gonçalves CGA. 1996. Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis. Am J Med Genet 66: 399-402.
11. Tabith A, Bento-Gonçalves CGA. 2003. Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: Description of two new patients. Am J Med Genet Part A 122A: 133-138.
12. Vendramini S, Netto CC, Tabith A. 2004. Audiological findings in patients with the Richieri-Costa-Pereira syndrome. Arq Ciênc Saúde 11: 120-123.
13. Walter-Nicolet E, Coëslier A, Loriot S, Kacet N, Moerman A, Manouvriei-Hanum S. 1999. The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant. Am J Med Genet 87: 430-433.