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Richieri-Costa & Pereira sendromu (acrofacial dysostosis, Richieri-Costa/Pereira tipi; Richieri-Costa-Pereira sendromu)

Kalıtsal - AR

Gelişme geriliği

Kafa kemiklerinin ossifikasyonunda gecikme

İri kulaklar

Belirgin burun

Pierre Robin sequence bulguları

Retrognati

Mikrostomi

Yarık altçene (altçene yarığı)

Hipodonti (alt kesiciler agenezi)

Yarık damak

Uvula bifida

Larinks anomalileri

Garip ses tonu

İskelet sistemi anomalileri

Zeka geriliği

  • Ferreira de Lima RLL, Moretti-Ferreira D, Richieri-Costa A, Murray JC. Identity by descent and candidate gene mapping of Richieri Costa and Pereira syndrome. American Journal of Medical Genetics, 122A: 56-58, 2003

  • Golbert MB, Dewes LO, Philipsen VR, et al. New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. Clinical Dysmorphology, 16: 85-88, 2007

  • Graziadio C, Rosa RFM, Zen PRG, et al.  Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs. (Letter) American Journal of Medical Genetics, 149A: 2886-2888, 2009

  • Favaro FP, Zechi-Ceide RM, Alvarez CW, et al.  Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases. American Journal of Medical Genetics, 155A: 322-331, 2011

  • Favaro FP, Alvizi L, Zechi-Ceide RM, et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94: 120-128, 2014