R

 

Robinow sendromu (fetal face)

Kalıtsal

4 fenotip: biri otosomal resessif, üçü otosomal dominant

Ortak bulgular

Kısa boy

Alın düz ve geniş

Hipertelorizm

Uzun kirpikler

Garip yüz yapısı

Yüzde 8 haftalık fötüs izlenimi

Kısa/basık burun

Yüz  hipoplazisi (orta bölüm)

Düz/basık yüz

Köşeleri aşağı dönük büyük üçgen ağız

Üst dudak ince

Mikrognati

Gingival hiperplazi

Dişlerde sürme aksamaları

Parmak anomalileri

 

Otosomal resessif tip

Alt göz kapakları S biçiminde

Düşük kulaklar

Üstçene arkı trapezoid

Kısa damak (hipoplazi)

Hipodonti

Maloklüzyon

Alveol kreti deformasyonu

Ankyloglossia

Makroglossi

İki loblu dil

Uvula agenezi

Ekstremite kısalığı

Vertebra ve kosta anomalileri

Tırnaklarda displazi

Genital organ anomalileri

Hidronefroz

Deride nevus flammeus

 

Otosomal dominant tipler (1, 2, 3)

Makrosefali

Ekzoftalmi

Filtrum uzun

Dar-çukur damak

Yarık dudak

Yarık damak

Uvula bifida

Uvula hipoplazisi

Trigonum retromolare geniş

Kalpte septum defektleri

 

  • Akşit S, Aydınlıoğlu H, Dizdarer G, et al. Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. Clinical Genetics, 52: 226-230, 1997

  • van Bokhoven H, Celli J, Kayserili H, et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics, 25: 423-426, 2000

  • Tufan F, Cefle K, Türkmen S, et al. Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. American Journal of Medical Genetics A, 136:185–189, 2005

  • Mazzeu JF, Pardono E, Vianna-Morgante AM, et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. American Journal of Medical Genetics A, 143(4):320-325, 2007

  • Brunetti-Pierri N, Del Gaudio D, Peters H, et al. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics A, 146A:2804–2809, 2008

  • Schwarzer W, Witte F, Rajab A, et al. A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics, 18: 4013-4021, 2009

  • Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Clinical Genetics, 80:15–24, 2011

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Bunn KJ, Lai A, Al-Ani A, et al. An osteosclerotic form of Robinow syndrome. American Journal of Medical Genetics A, 164A(10):2638-264, 2014

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

  • White JJ, Mazzeu JF, Hoischen A, et al. DVL3 alleles resulting in a -1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome. American Journal of Human Genetics, 98: 553-561, 2016

  • White JJ, Mazzeu JF, Çoban-Akdemir Z, et al. WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome. American Journal of Human Genetics, 102: 27-43, 2018