SRTD-Syndrom (Short-rib thoracic dysplasia)
SRTD-Syndrom (Short-rib thoracic dysplasia) ist eine Gruppe von Knochendeformationen, die durch einen engen Thorax und Polydaktylie gekennzeichnet sind.
Gliederung
Referenzen:
1. |
Merrill AE et. al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. [^] |
2. |
Dagoneau N et. al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. [^] |
3. |
Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski. [^] |
4. |
El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. [^] |
5. |
Schmidts M et. al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. [^] |
6. |
Duran I et. al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. [^] |
7. |
Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. [^] |
8. |
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. [^] |
9. |
Mill P et. al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. [^] |
10. |
Zhang W et. al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. [^] |
11. |
Huber C et. al. (2012) Ciliary disorder of the skeleton. [^] |
12. |
Balci S et. al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. [^] |
13. |
None (1988) A lethal short rib syndrome without polydactyly. [^] |
14. |
None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. [^] |
15. |
Beemer FA et. al. (1983) A new short rib syndrome: report of two cases. [^] |
16. |
None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. [^] |
17. |
Cideciyan D et. al. (1993) New findings in short rib syndrome. [^] |
18. |
Elçioğlu N et. al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. [^] |
19. |
Kovács N et. al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. [^] |
20. |
Hanissian AS et. al. (1967) Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome. [^] |
21. |
None (1980) Renal lesion in Jeune's syndrome. [^] |
22. |
Landing BH et. al. (1980) Morphometric analysis of liver lesions in cystic diseases of childhood. [^] |
23. |
Zack P et. al. (1995) Spondyloenchondromatosis: syndromic identity and evolution of the phenotype. [^] |
24. |
Takada F et. al. (1994) Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl. [^] |
25. |
Labrune P et. al. (1999) Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. [^] |
26. |
Kajantie E et. al. (2001) Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care. [^] |
27. |
Morgan NV et. al. (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. [^] |
28. |
JEUNE M et. al. (1955) [Asphyxiating thoracic dystrophy with familial characteristics]. [^] |
29. |
MAROTEAUX P et. al. (1964) [ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME]. [^] |
30. |
Lehman AM et. al. (2010) Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. [^] |
31. |
Elçioglu NH et. al. (2002) Diagnostic dilemmas in the short rib-polydactyly syndrome group. [^] |
32. |
Takamine Y et. al. (2004) Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. [^] |