TableĀ 2

Information sources for microcephaly with dysmorphic features and/or congenital anomalies

Information sourceComments
ExperienceHaving seen cases with the diagnosis before; probably the best.
Books
(both with good searchable indexes)
For example, Smith's recognisable patterns of human malformation, 6th edition. Edited by Jones LJ. ISBN 0-7216-0615-6.
Gorlin's syndromes of the head and neck, 5th Ed. Hennekam R, Allanson J, Krantz I. ISBN-13: 978-0195307900
Databases
(best regarded as expert systems)
For example, the Winter-Baraitser dysmorphology database; http://www.lmdatabases.com/index.html.
POSSUM (Pictures Of Standard Syndromes and Undiagnosed Malformations), http://www.possum.net.au/
Medical journals
(best used after a diagnosis is achieved)
Via PubMed, http://www.ncbi.nlm.nih.gov/pubmed.
OMIM is freely available and often provides a starting point into the literature, http://www.ncbi.nlm.nih.gov/omim?db=omim&itool=toolbar
For a specific diagnosis check if there is an article in GeneReviews (freely available), http://www.ncbi.nlm.nih.gov/books/NBK1116/
Parent support groupsContact a family, http://www.cafamily.org.uk/
Clinical Genetics opinionEither by joint clinics or referral
  • OMIM, on-line Mendelian Inheritance of Man.