Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray

Acta Paediatrica, International Journal of Paediatrics

Volumn 96, Issue 7, 2007, Pages 1101-1104

  Stenram, Unne ^a   Cramnert, Catarina ^b   Axfors Olsson, Helene ^c  

^a LUND UNIVERSITY   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c CENTRAL HOSPITAL   (Sweden)

Author keywords

Bardet Biedl syndrome; Centriole basal body; Ciliopathy; Oralfacialdigital syndrome; Respiratory tract cilia; Ultrastructure

Indexed keywords

BRONCHODILATING AGENT; MUCOLYTIC AGENT;

ARTICLE; ATELECTASIS; BARDET BIEDL SYNDROME; BRONCHUS BIOPSY; CASE REPORT; CELL ULTRASTRUCTURE; CENTRIOLE; CLINICAL FEATURE; DYSOSTOSIS; FACE DYSMORPHIA; FEMALE; HUMAN; HUMAN TISSUE; KINETOSOME; MOUTH MALFORMATION; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SYMPTOMATOLOGY;

ABNORMALITIES, MULTIPLE; ATELECTASIS; CENTRIOLES; CILIA; FACE; FEMALE; HUMANS; INFANT, NEWBORN; MICROSCOPY, ELECTRON; MOUTH ABNORMALITIES; POLYDACTYLY; RESPIRATORY SYSTEM ABNORMALITIES;

EID: 34250626340     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00326.x     Document Type: Article

References (15)

1. Badano J, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006 7 : 125 48.
2. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective population-based, cohort study. Am J Med Genet 2005 132A : 352 60.
3. Matheny M, Hall B, Manalihod JM. Otolaryngologic aspects of oral-facial-digital syndrome. Int J Pediatr Otorhinolaryngol 2000 53 : 39 44.
4. Marshall WF, Nonaka A. Cilia: tuning in to the cell's antenna. Curr Biol 2006 16 : R604 14.
5. Götz M, Stockinger L. Aplasia of respiratory tract cilia. Lancet 1983 i : 1283.
6. de Santi MM, Gardi C, Barlocco G, Canciani M, Mastella G, Lungarella G. Cilia-lacking respiratory cells in ciliary aplasia. Biol Cell 1988 64 : 67 70.
7. Hagiwara H, Ogwada N, Takata K. Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium. Int Rev Cytol 2004 234 : 101 41.
8. Chen J, Messner A, Chang K. Familial laryngomalacia in two siblings with syndromic features. Int J Pediatr Otorhinolaryngol 2006 70 : 1651 5.
9. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2007 80 : 1 11.
10. Marshall J, Bronson R, Collin G, Nordstrom AD, Maffei P, Paisey RB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005 165 : 675 83.
11. Tosi GM, Pradal U, Luzi P. Usher syndrome type 1 associated with primary ciliary aplasia. Arch Ophthalmol 2003 121 : 407 8.
12. Lungarella G, Dallai R, de Santi MM. Clinical course and changes in respiratory epithelium in two sisters suffering from ciliary aplasia. In : Canciani M, Lungarella G, eds. Primary ciliary dyskinesia, second joint meeting. Chiusaforte : La Chiusa, 1997 : 15 25.
13. Gil YR, González MAM, Orradre JL. Ciliary hypoplasia: a rare cause of ciliary dyskinesia. Ultrastruct Pathol 2006 30 : 401 2.
14. Carlén B, Stenram U. Primary ciliary dyskinesia: a review. Ultrastruct Pathol 2005 29 : 217 20.
15. Afzelius BA. A human syndrome caused by immotile cilia. Science 1976 193 : 316 18.