Papillon-Léage-Psaume syndrome is an x-linked dominant disorder caused by mutations of the OFD1 gene. The disease is lethal in males. It is a ciliopathy characterized by skeletal, neuronal and visceral malformations.
Orofaciodigital syndrome | ||||
Orofaciodigital syndrome 01 | ||||
OFD1 | ||||
Orofaciodigital syndrome 04 | ||||
Orofaciodigital syndrome 06 | ||||
Orofaciodigital syndrome 16 | ||||
Orofaciodigital syndrome 9 | ||||
1. |
Harrod MJ et al. (1976) Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I. |
2. |
KUSHNICK T et al. (1963) OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT. |
3. |
DOEGE TC et al. (1964) STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME. |
4. |
RUESS AL et al. (1962) The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities. |
5. |
Gurrieri F et al. (2007) Oral-facial-digital syndromes: review and diagnostic guidelines. |
6. |
None (2009) Are the oral-facial-digital syndromes ciliopathies? |
7. |
Chetty-John S et al. (2010) Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). |
8. |
Bruel AL et al. (2017) Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. |
9. |
Townes PL et al. (1976) Further heterogeneity of the oral-facial-digital syndromes. |
10. |
Melnick M et al. (1975) Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. |
11. |
Ferrante MI et al. (2001) Identification of the gene for oral-facial-digital type I syndrome. |
12. |
Larralde de Luna M et al. (1992) Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume. |
13. |
Goodship J et al. (1991) A male with type I orofaciodigital syndrome. |
14. |
Salinas CF et al. (1991) Variability of expression of the orofaciodigital syndrome type I in black females: six cases. |
15. |
Lipp MJ et al. (1990) The oral-facial-digital syndrome: case report of a mother and daughter. |
16. |
Connacher AA et al. (1987) Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. |
17. |
Donnai D et al. (1987) Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. |
18. |
Towfighi J et al. (1985) Neuropathology of oral-facial-digital syndromes. |
19. |
Wahrman J et al. (1966) The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes. |
20. |
FUHRMANN W et al. (1960) [On the genetics of the combination of harelip-cleft palate and syndactylia]. |
21. |
Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males. |
22. |
Rakkolainen A et al. (2002) Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. |
23. |
Morisawa T et al. (2004) Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. |
24. |
Thauvin-Robinet C et al. (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. |
25. |
Ferrante MI et al. (2009) Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. |
26. |
Zullo A et al. (2010) Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. |
27. |
Solomon LM et al. (1970) Pilosebaceous dysplasia in the oral-facial-digital syndrome. |
28. |
Reinwein H et al. (1966) [Studies on a family with orofaciodigital syndrome]. |
29. |
Annerén G et al. (1984) Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. |
30. |
Cohen MM et al. (1981) Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1. |
31. |
Feather SA et al. (1997) The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. |
32. |
Feather SA et al. (1997) Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. |
33. |
Morán-Barroso V et al. (1998) Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? |
34. |
Gedeon AK et al. (1999) Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. |
35. |
Shotelersuk V et al. (1999) Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. |
36. |
Degner D et al. (1999) [Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings]. |
37. |
GORLIN RJ et al. (1961) Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another. |
38. |
GORLIN RJ et al. (1962) Orodigitofacial dysostosis--a new syndrome. A study of 22 cases. |
39. |
OMIM.ORG article Omim 311200 |