Screening for congenital hearing impairment with brainstem evoked response audiometry in isolated orofacial cleft.

Brainstem evoked response audiometry (BERA) is the most established and recommended objective audiometric method for the clinical diagnosis of hearing impairment in high-risk infants. It is unclear whether infants with orofacial clefts meet the criteria for the high-risk group. This retrospective cohort study evaluated the need for diagnostic BERA in infants with cleft palate with or without cleft lip by assessing the predisposition to and diagnosis of congenital hearing impairment. Data from 122 patients treated at a single cleft centre were evaluated. BERA was conducted at the time of palate repair at 4-6 months of age. Clinical follow-up was analysed up to 4 years. The presence of a syndrome was examined as a risk factor for congenital hearing impairment. Among the 122 patients, four had congenital sensorineural or mixed hearing loss requiring hearing aids. All affected patients had syndromes in addition to the cleft. Most patients with elevated hearing thresholds had transient conductive hearing loss. Most suspected sensorineural hearing loss initially diagnosed was refuted. However, a higher incidence of sensorineural hearing loss was found in patients with syndromic clefts, supporting the diagnostic use of BERA with initial surgery only in patients with syndromic clefts.

Central nervous malformations in presence of clefts reflect developmental interplay.

Children with cleft lip and/or cleft palate (CLP) often have additional congenital malformations. The reported incidences are variable and presumed underlying mechanisms are rarely discussed. In this study, 245 CLP patients of a geographically defined population were retrospectively reviewed for additional major malformations and minor anomalies. Malformation incidences in the CLP population were compared to those in a literature-based cohort from the general population. Of the CLP patients, 21% showed either major malformations or minor anomalies. In one-fifth of them a recognized syndrome was identified. Two thirds of the CLP patients with minor anomalies also had major malformations. Major malformations in non-syndromic CLP patients were found with decreasing frequency in the musculoskeletal (5.1%), central nervous (4.2%), urogenital (3.8%) and cardiovascular (3.4%) systems. Malformations in these organ systems and minor anomalies should be ruled out by a specialist. The rise in malformation incidence, when compared to the general population, was highest for organs of ectodermal and ecto-mesodermal origin: central nervous system (13 times), ocular (7 times) and craniofacial system (7 times). The result reflects the close interplay of craniofacial and brain development.

Missing facial parts computed by a morphable model and transferred directly to a polyamide laser-sintered prosthesis: an innovation study.

Mirroring of missing facial parts and rapid prototyping of templates have become widely used in the manufacture of prostheses. However, mirroring is not applicable for central facial defects, and the manufacture of a template still requires labour-intensive transformation into the final facial prosthesis. We have explored innovative techniques to meet these remaining challenges. We used a morphable model of a face for the reconstruction of missing facial parts that did not have mirror images, and skin-coloured polyamide laser sintering for direct manufacture of the prosthesis. From the knowledge gleaned from a data set of 200 coloured, three-dimensional scans, we generated a missing nose that was statistically compatible with the remaining parts of the patient's face. The planned prosthesis was manufactured directly from biocompatible skin-coloured polyamide powder by selective laser sintering, and the prosthesis planning system produced a normal-looking reconstruction. The polyamide will need adjustable colouring, and we must be able to combine it with a self-curing resin to fulfil the requirements of realistic permanent use.