No abstract

More than 300 cases of Angelman Syndrome (AS) have been reported. AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13. Of the reported cases of AS, very few are of adults with AS. We present our findings on 11 adults with AS identified in a long-term residential care facility for persons with severe developmental disabilities. The diagnosis of AS was not recognized at the time of their admission but was established as part of our evaluation. Thus, there may be an underestimate of the true incidence of AS especially in adults with severe developmental disabilities.

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46, XX or XY, del(7)(q32); 46, XX or XY, del(7)(pter→q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.

No abstract

The cryptophthalmos-syndactyly syndrome is a rare disorder of which approximately 55 cases have been reported in the world literature. A few have been described in the American literature. It is the purpose of this paper to report another case and to stress the importance of early identification and of genetic counseling of the parents.