Parents of children born with mental or physical handicaps, tend to face the physician with questions about the origin of the abnormality concerned and the chance of having another child with the same condition. The physician then finds himself in a difficult situation since the causes of the majority of congenital abnormalities remain as yet unknown. In most cases he has to restrict himself to a mere enumeration of the signs and symptoms encountered or, at best, to a classification of the syndrome at hand. Efforts are frequently made to connect both the somatic aberrations and the mental deficiency with complications during the later stages of pregnancy, at the time of delivery or in the immediate postnatal period. However, a careful search for such items as abnormal dermatoglyphs, or 'degenerative stigmata', and, in particular, a post-mortem examination of the brain, often indicates that the handicap concerned should be ascribed to factors operating long before the time of birth. Theoretically, the causes of abnormalities present at birth can be listed as of a genetic, germinal or peristatic nature. During the past decades special attention has been paid to both genetic and peristatic factors. The purpose of this thesis is to stress the importance of germinal factors, in particular those which, at least in theory, might lead to disturbances in the ripening process of the human egg. We were put on this track by some data concerning the circumstances under which one of our patients presumably had been conceived.
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
Parents of children born with mental or physical handicaps, tend to face the physician with questions about the origin of the abnormality concerned and the chance of having another child with the same condition. The physician then finds himself in a difficult situation since the causes of the majority of congenital abnormalities remain as yet unknown. In most cases he has to restrict himself to a mere enumeration of the signs and symptoms encountered or, at best, to a classification of the syndrome at hand. Efforts are frequently made to connect both the somatic aberrations and the mental deficiency with complications during the later stages of pregnancy, at the time of delivery or in the immediate postnatal period. However, a careful search for such items as abnormal dermatoglyphs, or 'degenerative stigmata', and, in particular, a post-mortem examination of the brain, often indicates that the handicap concerned should be ascribed to factors operating long before the time of birth. Theoretically, the causes of abnormalities present at birth can be listed as of a genetic, germinal or peristatic nature. During the past decades special attention has been paid to both genetic and peristatic factors. The purpose of this thesis is to stress the importance of germinal factors, in particular those which, at least in theory, might lead to disturbances in the ripening process of the human egg. We were put on this track by some data concerning the circumstances under which one of our patients presumably had been conceived.
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