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
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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
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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
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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
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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
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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