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


CONCLUSIONS
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.
Stenram
Unne
U
Department of Pathology, Lund University, Lund, Sweden. unne.stenram@med.lu.se
Cramnert
Catarina
C
Axfors-Olsson
Helene
H
D000015:Abnormalities, Multiple; D002502:Centrioles / Q000648:ultrastructure*; D002923:Cilia / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009056:Mouth Abnormalities; D017689:Polydactyly; D001261:Pulmonary Atelectasis / Q000209:etiology; D015619:Respiratory System Abnormalities