Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/539734
- author
- Stenram, Unne LU ; Cramnert, Catarina and Axfors-Olsson, Helene
- organization
- publishing date
- 2007
- 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
- external identifiers
-
- wos:000247681600038
- scopus:34250626340
- ISSN
- 1651-2227
- DOI
- 10.1111/j.1651-2227.2007.00326.x
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
- 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
- 2016-04-01 16:07:40
- date last changed
- 2022-01-28 17:28:13
@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}},
keywords = {{ultrastructure; respiratory tract cilia; Bardet-Biedl syndrome; ciliopathy; oralfacialdigital syndrome; centriole/basal body}},
language = {{eng}},
number = {{7}},
pages = {{1101--1104}},
publisher = {{Wiley-Blackwell}},
series = {{Acta Pædiatrica}},
title = {{Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray.}},
url = {{https://lup.lub.lu.se/search/files/4576029/626014.pdf}},
doi = {{10.1111/j.1651-2227.2007.00326.x}},
volume = {{96}},
year = {{2007}},
}