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Oralfacialdigital‐like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray
Author(s) -
Stenram Unne,
Cramnert Catarina,
AxforsOlsson Helene
Publication year - 2007
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2007.00326.x
Subject(s) - ciliopathy , medicine , basal body , cilium , polydactyly , respiratory tract , centriole , basal (medicine) , anatomy , pathology , respiratory system , ultrastructure , biology , genetics , endocrinology , diabetes mellitus , flagellum , gene , phenotype
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.