搜索结果：syndromology

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Syndromology belongs to diagnostic methods based on the analysis of phenotypic (clinical or anatomical--dysmorphics) features, which occur very often together and have a common etiology (e.g. teratogenic embryopathy, numerical and structural chromosomal aberrations or gene mutations). In the phenotype analysis important appear so-called signal features, which enable to narrow the range of possible disorders for the differential diagnosis of the assumptive diseases.

Part I introduces the survey and presents a topic outline of the 10 parts that make up this overview of syndromology in this and the next four issues. The discussion in Part I considers various concepts and definitions of the term "syndrome" and different ways of applying syndrome designations. A population definition of a syndrome is then developed to show the meaning of common, less common, and occasional anomalies in various syndromes. The differences between a true multiple anomaly syndrome and a variant familial pattern are discussed. Finally, two types of weak recurrent patterns--chance patterns and association patterns--are explained.

Jonathan Hutchinson (Fig. ​(Fig.1a,1a, b), London surgeon of the latter half of the 19th century, was an exceptionally astute clinical observer. He was, furthermore, an assiduous and prolific recorder of observations over a wide range of fields. In his prime he did for many years all the onerous work of a surgeon at the London Hospital. He was president of the Royal College of Surgeons in 1888, and is said to have still been doing mastectomies at age 70. But he also worked at the Moorsfield Eye Hospital and in 1863 published a monograph entitled “A Clinical Memoir on Certain Diseases of the Eye and Ear, consequent on Inherited Syphilis,” containing early fundus portraits prepared by his long-time artist-illustrator Edwin Burgess, scarcely a decade after the invention of the ophthalmoscope. In addition, he worked at Blackfriar's Skin Hospital and was president of an international congress of dermatology (1896). He was a mentor and collaborator of pioneer neurologist Hughlings Jackson and president of the Neurological Society in 1887.

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Syndromes of congenital malformations are interesting and challenging phenomena which deserve observation, description and treatment of the children and adults who are afflicted by these multiple birth defects. However, the highest level of syndrome research is etiologic research, because knowledge of the causes of multiple congenital malformations promises prevention. Although naming syndromes and classifications are important auxiliary activities, they must not be our final goal. The infinite number of combinations of congenital defects suggests that terminology and classification should be tentative and flexible and that rigidity be avoided. The same holds for statements of causation. I tried to make it clear that we are far from a full understanding of all the principles involved in the etiology of malformations. Many unexpected discoveries along these lines have been made during my lifetime and many of those who pretended to have the final answers were shown to be wrong. It was particularly distressi...

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Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first described by Albert Schinzel as early as in 1979, but the diagnosis of this syndrome still remains challenging. Here we report a family with 2 sibs with acrocallosal syndrome caused by novel mutations in KIF7. They present with features like molar tooth sign and hyperventilation that are not very typical in ACLS, but do occur in other ciliopathies, hence we also discuss the clinical heterogeneity of KIF7-associated disorders.

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The occurrence of many congenital syndromes has long been an enigma. Clinically, the phenotype of any given genetic defect usually varies to some extent, whilst, pathogenetically, features within each syndrome are probably interconnected, albeit by largely unknown mechanisms. Through its unique theories such as the Jing-Mai (variously translated as the Channels, Vessels or Meridians), Zang-Fu (the Yin and Yang internal organs) and Wu-Xing (translated as the Five-Phase Correspondence or Five-Element theory), traditional Chinese medicine (TCM) seems to have comprehensively summarized the makeup of the human phenotypes. By combining the above TCM theories with modem medical knowledge, the intrinsic mechanisms between various aspects of the phenotypic makeup of the human individual, i.e. the Human Phenome, may be deduced. Analysis of congenital syndromes in light of the Human Phenome seems to suggest that various genetic defects may cause diseases in a similar fashion; i.e. primarily with structural abnormalities distributed along the four Jing-Mai connected with the Kidneys (midline defects) as well as "Marrow" aberrations (anomalies of hematology/immunology, endocrine, central nervous system and the bones). The derived Human Phenome may thereby enable a better understanding of such conditions and provide a model for the study of multigenic traits. On the other hand, blind spots of clinical observation and unknown aspects of human nature, e.g. circuits formed by the JingMai, symmetries of the Jing-Mai and Zang-Fu, and correspondences between body physiques, spiritual factors and the external world may also be deduced. The TCM-based Human Phenome may thereby offer a fresh view for genotype-phenotype correlations, insights into genedevelopment mechanisms, as well as potential directions for the development of new treatments.

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Information on the clinico-anatomical syndromes and organic pathology in HIV infection (AIDS) is summarized. Role of pathomorphological examination of biopsies and autopsies in the diagnosis of the conditions associated with HIV infection as well as a controversy in the pathogenesis and pathology of AIDS is outlined.

The role of chance using a stochastic single gene model has been shown to generate a continuous liability curve resembling that obtained from a multifactorial threshold model. Segregation of some malformations may be explained by a single defective gene that predisposes to, but does not necessarily result in, the malformation. Low penetrance and remarkably variable expressivity that characterize a number of presumed autosomal dominant malformation syndromes are possibly reflections of specific stochastic influences that are intrinsic to the embryonic process itself. Gene analysis is discussed and illustrated. Using polymorphic DNA probes to study cleft palate and ankyloglossia in males and ankyloglossia only in females in a large Icelandic family, the responsible gene was found to be located on the long arm of the X chromosome in the Xq21.1 region. In addition to gene analysis, some of the implications of transgenic analysis using mice are discussed. Among disorders of collagen metabolism, both the osteogenesis imperfectas and the Ehlers-Danlos syndromes are shown to represent genetically heterogeneous groups of connective tissue disorders. The days of thinking about osteogenesis imperfecta as one disorder and the Ehlers-Danlos syndrome as another are a thing of the past; persistence of such thinking is erroneous and misleading. Of the many disorders affecting bone mineral, the complexities of hypophosphatasia and pseudohypoparathyroidism are singled out for discussion. For lysosomal storage disorders, an overview of the mucopolysaccharidoses is provided. Finally, the recently delineated peroxisomal disorders--hyperpipecolic acidemia, rhizomelic chondrodysplasia, neonatal adrenoleukodystrophy, Zellweger syndrome, and infantile Refsum disease--are known to share a distinctive biochemical phenotype, although fibroblast complementation analysis suggests that some of these disorders are etiologically distinct.

Various aspects of aneuploidy are discussed including growth disturbance, developmental buffering and variable expression, generalized features of aneuploidy, and microdeletion syndromes.

There are many ways to classify syndromes. In Part II, some general types of classification are considered including etiologic classification, embryonic/histologic classification, and syndrome prototypes. Polythetic classifications, in which syndromes are grouped because of their overall similarity, are then contrasted with the more commonly used monothetic classifications, in which syndromes are grouped together because they share a single feature in common. The general survey concludes with a discussion of mixed classifications. Finally, two contrasting craniofacial classifications--the Tessier classification and the morphogenetic classification--are considered.