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

 

  • 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

  • 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

  • Vaccaro M, Guarneri C, Blandino A. Trichorhinophalangeal syndrome. Journal of the American Academy of Dermatology, 53:858–860, 2005

  • 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

  • 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

  • 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

  • de Barros GM, Kakehasi AM. Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. Revista Brasileira De Reumatologia English Edition, 56:86–89, 2016

  • Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics, 170A:2611–2616, 2016

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