title: Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray.
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.
  
  
  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.
authors.affiliation: Department of Pathology, Lund University, Lund, Sweden. unne.stenram@med.lu.se
authors.forename: Unne
authors.initials: U
authors.lastname: Stenram
authors.forename: Catarina
authors.initials: C
authors.lastname: Cramnert
authors.forename: Helene
authors.initials: H
authors.lastname: Axfors-Olsson
mesh_terms: 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