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


, : Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray. Acta Paediatrica 96(7): 1101-1104

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.

US$19.90

PMID: 17577347

DOI: 10.1111/j.1651-2227.2007.00326.x


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