[Genetic syndromes of multiple congenital developmental defects].
Analysis of developmental defects in 615 children who had died in hospitals in Minsk during the 5-year period (1971--1975)showed that in 274 children defects were multiple. This number includes 78 children with chromosomal diseases and 37 children with genic syndromes of multiple congenital malformations (MCM). The total number of genic syndromes of MCM is extremely great, at present over 250 of them are known. Analysis of the available literature and the authors' own findings made it possible to develop criteria of morphological diagnosis of genic syndromes of MCM with due account for different diagnostic significance of various defects. Genealogical studies and estimation of population incidence of individual malformations are also necessary for diagnosis of genic syndromes of MCM and identification of new syndromes. An etiological classification of MCM and that of genic syndromes of MCM are considered on the basis of isolation of similar clinical forms, which are of important for differential diagnosis.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000175:diagnosis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D003398:Craniosynostoses / Q000175:diagnosis; D003937:Diagnosis, Differential; D004480:Ectromelia / Q000175:diagnosis; D005124:Eye Abnormalities; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis; D008831:Microcephaly / Q000175:diagnosis; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome
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