Christopher Cunniff

TL;DR: A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation, and the consensus recommendations were as follows: 1. Selective laboratory testing should, in most patients, include a banded karyotype. 2. Metabolic testing should be initialed in the presence of suggestive clinical and physical findings.

TL;DR: The need for clinicians to keep in mind the high prevalence of associated diagnoses with an ASD diagnosis is highlighted, and the possibility that in younger children other symptoms or disorders may be masking or obscuring core symptoms of ASD, which would lead to a diagnosis.

TL;DR: The increase in autism risk with both maternal and paternal age has potential implications for public health planning and investigations of autism etiology.

TL;DR: In this article, the authors examined whether a predisposition to developing osteosarcoma among an international cohort of Rothmund-Thomson syndrome (RTS) patients was associated with a distinctive pattern of mutations in the RECQL4 gene.

TL;DR: A comparison of the frequency of anomalies in biochemically identified patients with similar data from previously reported clinical series suggests that up to 25% of reports of RSH/SLO in the literature may describe genetic conditions other than RSH-SLO with 7-DHC-emia.