Yahoo Family Support Group: The patient also had congenital conductive hearing loss due to malformation and subluxation of the left stapes, and hypoplasia of the left mandible. This can cause many health problems. The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q The third child had DiGeorge sequence. Children with Facial Difference:
These clefts can be very difficult to identify without state-of-the-art diagnostic procedures such as nasopharyngoscopy.
Velocardiofacial Syndrome (VCFS)
It is likely that the cases reported to have VCFS who were found to be absent the deletion were simply clinical errors of judgment. Why did this happen? Sibship comparisons in 26 sibs from 12 families showed considerable variation in heart abnormalities between sibs, and development status was similar in most cases. Van Geet et al. The presence of asymmetric facial animation, characteristic ears, hypotonia, or any of the other anomalies consistent with VCFS would increase the level of suspicion. Furthermore, mental retardation, noted in all cases in previous publications, was not present in any of these 8 patients. It is for this reason that several reports have significantly underestimated the frequency of clefting, especially when data regarding anomalies has been ascertained from birth records or multiple sources with varying levels of diagnostic expertise [Ryan et al.