London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM

First published, in 1990, as the London Dysmorphology Database (with a separate neurogenetics database released the following year), the 3rd edition, published as the London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM, combines two comprehensive databases, together with an extensive photo library and free online updates for registered purchasers, onto a single CD-ROM. An accompanying 75-page instruction manual makes the software easy to install, and its eight chapters are replete with examples and illustrations (including a glossary of electrophysiological terms) that should enable even the most computer-challenged user to derive the maximum benefit from the two databases and photo library. Switching between databases is easily accomplished, and links to Online Mendelian Inheritance in Man (OMIM) and Medline are additional features.Dr. Baraitser and Prof. Winter have included more than 3,400 nonchromosomal syndromes (with their OMIM accession numbers and chromosomal loci, when known) in the dysmorphology database and nearly 3,300 neurological disorders in the neurogenetics database—along with more than 12,700 thumbnail photographs that, with a double click of the mouse (when the CD-ROM is inserted), can be displayed in detail. By use of the “My Collection” function, it is possible to edit photograph captions in the database and to import images from one’s own personal collection, as well.Every work, even an effort as encyclopedic in scope as the London databases, can be further improved. In the neurogenetics database’s syndrome keyword search, for example, to find an entry for oculopharyngeal dystrophy, the user first has to look under “muscular dystrophy”—“muscular dystrophy - oculopharyngeal (autosomal dominant)” or “muscular dystrophy - oculopharyngeal - autosomal recessive” (note the databases' inconsistency in use of parentheses and hyphens)—and, for the hyper- or hypokalemic forms of muscular dystrophy, under “periodic paralysis.” One major drawback is that laboratory abnormalities are not included in the syndrome feature search, nor, inexplicably, does the feature search contain a separate general heading for cardiovascular or heart abnormalities. Instead, the user must go first to “thorax” and then to the subheading “heart.” Although aortic incompetence is mentioned under “heart,” aortic dissection appears under “blood vessels”—and cystic medial necrosis is nowhere to be found, whereas mitral-valve prolapse is subsumed under “mitral incompetence.”At $2,495.00 per set—individual volumes can be purchased for $945.00—most individual practitioners will find the software prohibitively expensive. Nonetheless, metabolic disorders services, neurology clinics, and genetics centers, especially those involved in training programs, should find the databases to be a useful adjunct to standard reference works. Dr. Baraitser and Prof. Winter are to be commended for contributing a valuable resource to the literature of dysmorphology and neurogenetics. I would, however, offer one suggestion to enhance future versions of the London databases—namely, the inclusion of a section on chromosomal disorders.