Die Cranioektodermale Dysplasie ist eine autosomal rezessives Fehlbildungssyndrom mit kongenitalen Skelettveränderungen und ektodermalen Defekten. Auch eine Retinis pigmentosa kann beteiligt sein. Der renale Phänotyp kann eine Nephronophthiese sein. Es gibt verschiedene Unterformen die durch unterschiedliche Gene ausgelöst werden. .
1. |
Zaffanello M et al. (2006) Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. |
2. |
Fry AE et al. (2009) Connective tissue involvement in two patients with features of cranioectodermal dysplasia. |
3. |
Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. |
4. |
Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. |
5. |
Gellis S et al. (1979) Cranioectodermal dysplasia. |
6. |
Levin LS et al. (1977) A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. |
7. |
Lang GD et al. (1991) Cranioectodermal dysplasia in sibs. |
8. |
None (1989) Cranioectodermal dysplasia (Sensenbrenner's syndrome). |
9. |
Eke T et al. (1996) A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. |
10. |
Amar MJ et al. (1997) Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome) |
11. |
Tamai S et al. (2002) Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death. |
12. |
Lin AE et al. (2013) Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. |
13. |
Orphanet article Orphanet ID 1515 |
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Wikipedia Artikel Wikipedia DE (Kranioektodermale_Dysplasie) |