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 skill
