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
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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
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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
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Froyen G, Govaerts K, Van Esch H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clinical Genetics, 76:535–543, 2009
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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
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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
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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
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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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
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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
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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
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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