Cranioectodermal dysplasia kümesi
Kraniyoektodermal displazi
Kalıtsal - AR
4 fenotip
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Cranioectodermal dysplasia 1
(Sensenbrenner sendromu; Levin sendromu; arthrodentoosseous dysplasia)
Gelişme geriliği
Dolikosefali
Alın bombesi yüksek
Oksiput belirgin
Saçlar seyrek
Hipertelorizm
Retinal displazi bulguları
Burun yayvan
Yanaklar dolgun
Alt dudak dışa dönük
Çukur damak
Dişlerde hipoplazi
Mikrodonti
Diastemalar
Hipodonti (sürekli dişler)
Dişlerde füzyon
Tüberkül malformasyonları
Nefronoftizi (progressif renal yetmezlik)
Hepatik fibrozis
Deri gevşek
Osteoporoz
Dar toraks
Distal ekstremitelerde kısalık
Parmak anomalileri
Eklemler gevşek
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Tamai S, Tojo M, Kamimaki T, et al. Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death. (Letter) American Journal of Medical Genetics,107: 78-80, 2002
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Fry AE, Klingenberg C, Matthes J, et al. Connective tissue involvement in two patients with features of cranioectodermal dysplasia. American Journal of Medical Genetics, 149A: 2212-2215, 2009
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Gilissen C, Arts HH, Hoischen A, et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. American Journal of Human Genetics, 87: 418-423, 2010
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Bacino CA, Dhar SU, Brunetti-Pierri N, et al. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. American Journal of Medical Genetics A, 158A:2917–2924, 2012
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Hoffer JL, Fryssira H, Konstantinidou AE, et al. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). Clinical Genetics, 83:92–95, 2013
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Lin AE, Traum AZ, Sahai I, et al. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. American Journal of Medical Genetics A, 161A(11):2762-2776, 2013
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Cranioectodermal dysplasia 2
Gelişme geriliği
Dolikosefali
Kraniyosinostozis
Asimetrik kafatası
Kafatasında yonca yaprağı izlenimi
Boyun kısa
Boyunda higroma
Alın bombesi yüksek
Saçlar seyrek
Hipertelorizm
Göz kapakları açıklığı az
Kaşlar-kirpikler seyrek
Gözler çekik
Burun yayvan
Yüz orta bölüm hipoplazisi
Yanaklar dolgun
Uzun-geniş-silik filtrum
Mikrognati
Retrognati
Alt dudak dışa dönük
Çukur damak
Yarık damak
Mikrodonti
Diastemalar
Hipodonti (sürekli dişler)
Dişlerde füzyon
Kalpte hipertrofi
Kalp kapak ve septum defektleri
Hipertansiyon
Toraks dar
Kosta anomalileri
Karaciğer patolojileri
Hiperbilirubinemi
Aksesuar dalak
Splenomegali
Renal kistler
Renal tubuler asidoz
Progressif renal yetmezlik
Deri gevşek
Vücut kılları seyrek
Dar toraks
Ekstremitelerde kısalık
Parmak anomalileri
Eklemler gevşek
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Arts HH, Bongers EMHF, Mans DA, et al. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics, 48: 390-395, 2011
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Bacino CA, Dhar SU, Brunetti-Pierri N, et al. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. American Journal of Medical Genetics, 158A:2917–2924, 2012
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Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, et al. Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. American Journal of Medical Genetics, 173A: 1364-1368, 2017
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Cranioectodermal dysplasia 3
Gelişme geriliği
Asimetrik kafatası (kayık biçiminde)
Dişlerde hipoplazi
Diastemalar
Toraks dar
Nefronoftizi
Progressif renal yetmezlik
Deri gevşek-kuru
Saçlar ince-seyrek
Dar toraks
Ekstremitelerde kısalık
Eklemler gevşek
Parmak anomalileri
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Gilissen C, Arts HH, Hoischen A, et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. American Journal of Human Genetics, 87: 418-423, 2010
-
Arts HH, Bongers EMHF, Mans DA, et al. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics, 48: 390-395, 2011
-
Bacino CA, Dhar SU, Brunetti-Pierri N, et al. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. American Journal of Medical Genetics, 158A:2917–2924, 2012
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Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, et al. Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. American Journal of Medical Genetics, 173A: 1364-1368, 2017
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Cranioectodermal dysplasia 4
Gelişme geriliği
Retinitis pigmentosa
Tüberkül malformasyonları (maksilla 1. azı, mandibular 1. premolarlar, kaninler)
Toraks dar-kısa
Restriktif akciğer hastalığı
Kısa-kalın kostalar
Hepatosplenomegali
Nefronoftizi
Progressif renal yetmezlik
Deri gevşek
Dar toraks
Ekstremitelerde kısalık
Pelvik eklem displazisi
Parmak anomalileri
Eklemler gevşek
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Arts HH, Bongers EMHF, Mans DA, et al. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics, 48: 390-395, 2011
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Bredrup C, Saunier S, Oud MM, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR1 American Journal of Human Genetics, 89: 634-643, 2011