Dysmorphology

This volume is a report of a meeting sponsored by the March of Dimes-Birth Defects Foundation at the University of California, San Diego, in June of 1981. It consists of a series of original papers which were presented at the conference and is divided into two sections: one on syndromes and the second on cytogenetics. A large variety of interesting papers on the subject of dysmorphology discuss a rather broad variety of syndromes including the Meckel syndrome, the lethal variant of metatrophic dwarfism, and a number of other new and rarely reported syndromes. An interesting paper by King considers the relationship of hydrops fetalis to genetic disorders. This is particularly timely since non-immunological causes of hydrops fetalis are becoming more common now that prevention of Rh incompatibility is such a usual part of prenatal practice. The clinical geneticist is often confronted with the question of the relationship of hydrops to other genetic disease and this paper is of help in resolving such questions. Several interesting sonograms are published, and these will be useful to those involved in prenatal diagnosis. The cytogenetic section consists entirely of case reports of various chromosome abnormalities. The paper by Blackburn et al. considers 55 cases of mosaic and complete triploidy. This is a very large series and will be of help to those caring for families in which such a child is being born. While the birth of a completely triploid infant is extremely rare, this study points out the features of most types of triploidy and reminds one of the indications for karyotyping infants with dysmorphic features. The paper by Peters on partial tetrasomy of chromosome 9 is an interesting case report of this extremely rare syndrome and has some nice photographs of banded chromosomes demonstrating the tetrasomy for chromosome 9. This book will be of great use to pediatric geneticists and those doing pediatric dysmorphology. It will not be of particular help to practicing pediatricians, as it is a collection of original articles and not a textbook which takes a particular direction.