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

Stenram, Unne LU ; Cramnert, Catarina and Axfors-Olsson, Helene (2007) In Acta Pædiatrica 96(7). p.1101-1104
Abstract
A girl with polydactyly has had respiratory tract problems, including atelectasis, since birth. She has a high arched palate, a tongue hamartoma and dysmorphic face. Electron microscopy of nasal and bronchial brush biopsies repeatedly revealed centriole/basal body disarray and extreme sparseness of cilia. At the age of 2 years and 11 months, she displayed retardation of both motor and mental skills. Conclusion: The manifestations tally with a ciliopathy, partly with the Bardet-Biedl syndrome (BBS) but especially with the oralfacialdigital syndrome (OFDS); however, with the addition of persistent respiratory tract problems. As these two syndromes are considered to be due to mutations affecting the centriole/basal body apparatus, the... (More)
A girl with polydactyly has had respiratory tract problems, including atelectasis, since birth. She has a high arched palate, a tongue hamartoma and dysmorphic face. Electron microscopy of nasal and bronchial brush biopsies repeatedly revealed centriole/basal body disarray and extreme sparseness of cilia. At the age of 2 years and 11 months, she displayed retardation of both motor and mental skills. Conclusion: The manifestations tally with a ciliopathy, partly with the Bardet-Biedl syndrome (BBS) but especially with the oralfacialdigital syndrome (OFDS); however, with the addition of persistent respiratory tract problems. As these two syndromes are considered to be due to mutations affecting the centriole/basal body apparatus, the ultrastructural demonstration of disarray of these structures, never before demonstrated in such a patient, is of fundamental interest. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ultrastructure, respiratory tract cilia, Bardet-Biedl syndrome, ciliopathy, oralfacialdigital syndrome, centriole/basal body
in
Acta Pædiatrica
volume
96
issue
7
pages
1101 - 1104
publisher
Wiley-Blackwell Publishing Ltd
external identifiers
  • wos:000247681600038
  • scopus:34250626340
ISSN
1651-2227
DOI
10.1111/j.1651-2227.2007.00326.x
language
English
LU publication?
yes
id
c9c8de8d-c7c3-4801-a088-a1c7fbb33afc (old id 539734)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17577347&dopt=Abstract
date added to LUP
2007-12-20 12:02:04
date last changed
2017-09-10 04:30:28
@article{c9c8de8d-c7c3-4801-a088-a1c7fbb33afc,
  abstract     = {A girl with polydactyly has had respiratory tract problems, including atelectasis, since birth. She has a high arched palate, a tongue hamartoma and dysmorphic face. Electron microscopy of nasal and bronchial brush biopsies repeatedly revealed centriole/basal body disarray and extreme sparseness of cilia. At the age of 2 years and 11 months, she displayed retardation of both motor and mental skills. Conclusion: The manifestations tally with a ciliopathy, partly with the Bardet-Biedl syndrome (BBS) but especially with the oralfacialdigital syndrome (OFDS); however, with the addition of persistent respiratory tract problems. As these two syndromes are considered to be due to mutations affecting the centriole/basal body apparatus, the ultrastructural demonstration of disarray of these structures, never before demonstrated in such a patient, is of fundamental interest.},
  author       = {Stenram, Unne and Cramnert, Catarina and Axfors-Olsson, Helene},
  issn         = {1651-2227},
  keyword      = {ultrastructure,respiratory tract cilia,Bardet-Biedl syndrome,ciliopathy,oralfacialdigital syndrome,centriole/basal body},
  language     = {eng},
  number       = {7},
  pages        = {1101--1104},
  publisher    = {Wiley-Blackwell Publishing Ltd},
  series       = {Acta Pædiatrica},
  title        = {Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray.},
  url          = {http://dx.doi.org/10.1111/j.1651-2227.2007.00326.x},
  volume       = {96},
  year         = {2007},
}