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This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.This dictionary covers them all. Examples:
Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts.
Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits.
Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.
This is a compilation of brief summaries of congenital malformations, malformation syndromes, and definitions of relevant terms. The purpose of the work is not stated by the authors. I believe they set out to help students and practitioners decipher the complex vocabulary and myriad syndromes involving congenital malformations. The authors do not identify their intended audience, but it seems aimed at students and general practitioners. This is a very nondescript appearing book. It has a very brief introduction, and it is organized like a dictionary. There is no table of contents, and there is no index or references. There are no photographs or illustrations to accompany the entries. Although a lexicon of malformations and malformation syndromes with brief entries might be welcomed by practicing physicians, this book does not well fill their needs. It does not include enough syndromes, and it should really include deformations and disruptions as well as malformations. Although illustrations need not be lavish, a few drawings and photographs would add to it significantly. Perhaps most importantly, the descriptions are too brief, and even casual inspection reveals a number of factual errors.
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