Trichorhinophalangeal sendrom I
Kalıtsal - AD
Gelişme geriliği
Alın geniş
Saçlar ince ve seyrek
Frontotemporal alopesi belirgin
Saçlar hipopigmente
Kaş çıkıntıları belirgin, kılları az
Gözler iri/belirgin
İri ve yumuşak burun
Kulaklar büyük
Filtrum uzun-silik
Yüz orta bölüm hipoplazisi
Üst dudak çok ince
Mikrognati
Çukur damak
Oligodonti
Mikrodonti
Süpernümerer dişler (kesiciler)
Maloklüzyon
Yineleyen solunum yolları infeksiyonları
Memeler küçük
Osteopeni
Konik epifizler
Ekstremiteler kısa
Kalça kemikleri displazisi
Parmaklarda eklem deformasyonları
Tırnaklarda displazi
Psikomotor gelişme yavaş
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Giedion A, Burdea M, Fruchter Z, et al. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helvetica Paediatrica Acta, 28:249–59, 1973
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Lüdecke HJ, Schaper J, Meinecke P, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. American Journal of Human Genetics, 68:81–91, 2001
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Vaccaro M, Guarneri C, Blandino A. Trichorhinophalangeal syndrome. Journal of the American Academy of Dermatology, 53:858–860, 2005
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Izumi K, Takagi M, Parikh AS, et al. Late manifestations of tricho-rhino-phalangeal syndrome in a patient: expanded skeletal phenotype in adulthood. American Journal of Medical Genetics, 152A:2115–2119, 2010
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Corsini C, Gencik M, Willems M, et al. Somatic mosaicism in trichorhino-phalangeal syndrome: a lesson for genetic counseling. European Journal of Human Genetics, 22:136–139, 2014
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Maas SM, Shaw AC, Bikker H, et al. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European Journal of Medical Genetics, 58:279–292, 2015
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de Barros GM, Kakehasi AM. Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. Revista Brasileira De Reumatologia English Edition, 56:86–89, 2016
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Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics, 170A:2611–2616, 2016