Orofaciodigitales Syndrom 06
Das Varadi-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im CPLANE1-Gen hervorgerufen wird. Die Erkrankung ist durch Abnormalitäten des Kleinhirns und der Metacarpalen charakterisiert.
Gliederung
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Referenzen:
1. |
Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. [^] |
2. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. [^] |
3. |
Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI. [^] |
4. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. [^] |
5. |
Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). [^] |
6. |
Haumont D et al. (1983) The Mohr syndrome: are there two variants? [^] |
7. |
Muenke M et al. (1991) On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. [^] |
8. |
Hingorani SR et al. (1991) Twin fetuses with abnormalities that overlap with three midline malformation complexes. [^] |
9. |
Münke M et al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. [^] |
10. |
Silengo MC et al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. [^] |
11. |
Gencík A et al. (1983) Mohr syndrome in two siblings. [^] |
12. |
Mattei JF et al. (1983) Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? [^] |
13. |
Egger J et al. (1982) Joubert-Boltshauser syndrome with polydactyly in siblings. [^] |
14. |
Váradi V et al. (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. [^] |
15. |
Shashi V et al. (1995) Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? [^] |
16. |
Stephan MJ et al. (1994) Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). [^] |
17. |
Cleper R et al. (1993) Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. [^] |
18. |
None (1993) Oral-facial-digital syndromes, 1992. [^] |
19. |
Doss BJ et al. (1998) Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). [^] |
20. |
Panigrahi I et al. (2013) Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. [^] |
21. |
Orphanet article Orphanet ID 2754 [^] |
22. |
OMIM.ORG article Omim 277170 [^] |