β Scribed by Allanson, Judith; Hunter, Alasdair; Cassidy, Suzanne; Curry, Cynthia; Donnai, Dian; Fraser, Clarke; Gorlin, Robert; Graham, John; Hall, Bryan; Hall, Judith; Jones, Kenneth Lyons; Stevenson, Roger; Winter, Robin
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The recognition of a new manifestation in a welldelineated syndrome is an important event. Similarly, the establishment of Mendelian inheritance of a condition that previously was seen only as an isolated event, either exclusively or in the main, merits attention. We refer, for example, to the description of a β€-cardiac myosin heavy-chain mutation in Noonan syndrome patients with hypertrophic cardiomyopathy , autosomal dominant inheritance of Kabuki syndrome , and the report of two additional families with vertical transmission of Russell-Silver syndrome .
Given the potential importance of these findings, we consider it essential that syndrome diagnosis be supported by published photographs. Without photographs there can be no independent, critical evaluation of the literature, which is a crucial component of good clinical practice. We urge the journal to develop and enforce a policy of photographic documentation of syndrome diagnosis.
π SIMILAR VOLUMES
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated ma