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Goltz sendromu (Goltz-Gorlin sendromu; fokal dermal hipoplazi)

Kalıtsal  - XLD

Çoğunlukla kız çocuklarında

Gelişme geriliği

Yerel alopesi

Mikroftalmi

İris agenezi

Anoftalmi

Optik atrofi

Koloboma

Nistagmus

Kulaklar malformasyonları

İşitme sorunları

Yüzde asimetri

Multipl papillomlar (ağız, dudak, burun, özofagusu, larinks, vagina, anal bölge) ve komplikasyonları

Yarık dudak

Yarık damak

Çok sayıda frenulum (çift lingual frenulum)

Yaygın gingivitis

Gingival hiperplazi

Oligodonti

Hipodonti

Mine hipoplazisi

Konik dişler

Natal dişler

Süpernümerer dişler

Dentisyonda aksaklıklar

Maloklüzyon

Kalp ve böbrek anomalileri

Deri: konjenital aplazi/hipoplazi, hipo/hiperpigmentasyon, telangiektaziler, yağ dokusu kümeleri, avuçiçinde hiperkeratoz

Tırnaklarda displazi

Süpernümerer/asimetrik meme uçları

Rektal prolapsus

Ekstremitelerde anomalileri (hipoplazi, sindaktili, oligodaktili, ektrodaktili)

Sağ klavikula aplazisi/hipoplazisi

Kostalarda malformasyonlar

Skolyoz

Spina bifida

Konjenital kalça çıkığı

Dev hücreli kemik lezyonları

Zeka geriliği

 

  • Ascherman JA, Knowles SL, Troutman KC. Extensive facial clefting in a patient with Goltz syndrome: multidisciplinary treatment of a previously unreported association. Cleft Palate-Craniofacial Journal, 39:469–473, 2002

  • Balmer R, Cameron AC, Adès L, Aldred MJ. Enamel defects and lyonization in focal dermal hypoplasia. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, & Endodontology, 98:686–691, 2004

  • Froyen G, Govaerts K, Van Esch H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clinical Genetics, 76:535–543, 2009

  • Dias C, Basto J, Pinho O, et al. A nonsense porcn pathogenic variant in severe focal dermal hypoplasia with natal teeth. Fetal & Pediatric Pathology, 29:305–313, 2010

  • Fernandes PH, Wen S, Sutton VR, et al. PORCN pathogenic variants and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genetic Testing & Molecular Biomarkers, 14:709–713, 2010

  • Murakami C, de Oliveira Lira Ortega A, Guimaraes AS, et al. Focal dermal hypoplasia: a case report and literature review.  Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, & Endodontology, 112:e11–18, 2011

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

  • Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172C:59–63, 2016

  • Bree AF, Grange DK, Hicks MJ, Goltz RW. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172C(1):44-51, 2016

  • Happle R. Goltz syndrome and PORCN: A view from Europe. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172C(1):21-23, 2016

  • Fete TJ, Fete M. International Research Symposium on Goltz syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics,172C: 3-6, 2016

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