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.
(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
(best regarded as expert systems)
For example, the Winter-Baraitser dysmorphology database;
POSSUM (Pictures Of Standard Syndromes and Undiagnosed Malformations),
Medical journals
(best used after a diagnosis is achieved)
Via PubMed,
OMIM is freely available and often provides a starting point into the literature,
For a specific diagnosis check if there is an article in GeneReviews (freely available),
Parent support groupsContact a family,
Clinical Genetics opinionEither by joint clinics or referral
  • OMIM, on-line Mendelian Inheritance of Man.