Smith's recognizable patterns of human malformation
Provides information on a large number of common and rare disorders which cause human malformation. This title outlines the features of the conditions with information on natural history, etiology, and pathogenesis. It features illustrations and a list of references which include the initial description, a review, and pertinent molecular studies.
xviii, 857 p. : il. (algunas color)
9780721661155, 0721661157
55540464
Recognizable Patterns of Malformation: Chromosomal Abnormality Syndromes. Very Small Stature, Not Skeletal Dysplasia. Moderate Short Stature, Facial, +/- Genital. Senile-Like Appearance. Early Overgrowth with Associated Defects. Unusual Brain And/Or Neuromuscular Findings with Associated Defects. Facial Defects as Major Feature. Limb Defects as Major Feature. Osteochondrodysplasias. Osteochondrodysplasias with Osteopetrosis. Craniosynostosis Syndromes. Other Skeletal Dysplasias. Storage Disorders. Connective Tissue Disorders. Hamartoses. Ectodermal Dysplasias. Environmental Agents. Miscellaneous Syndromes. Miscellaneous Sequences. Spectra of Defects. Miscellaneous Associations. Alphabetical Listing of Syndromes. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia. Morphogenesis and Dysmorphogenesis. Genetics, Genetic Counselling and Prevention. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes. Normal Standards. Pattern of Malformation Differential Diagnosis By Anomalies.
Ed. rev. de: recognizable patterns of human malformation / by david w. smith with the assistance of kenneth lyons jones. 3 ed. 1982