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An analysis of phenotypic manifestations of Wolf-Hirschhorn syndrome from the 60 cases most thoroughly described in the literature and 3 own observations was done. Most characteristic malformations of this syndrome were shown to include coracoid nose and hypertelorism, coloboma of the eyes, hypospadia, aplasia, hypoplasia and polycystosis of the kidneys,(More)
An observation of Neu-Povýsilová lethal syndrome of multiple congenital malformations and data on 6 cases of this syndrome described in the literature are presented. The main morphological manifestations of the syndrome include markedly manifest prenatal hypoplasia, defects of the CNS and the extremities. The presumed type of heredity is autosomal-recessive.
The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was(More)
An analysis of 304 cases of esophageal atresia in fetuses and neonates showed that frequency of other congenital malformations is 43.1% including 10% of chromosomal disorders and monogenous syndromes. Summarizing the authors' own data and evidences from literature the genetic risk for sibs is calculated to be 0.88% and heredity--57.3 +/- 5.1%. The(More)
Clinical genetic analysis of distal trisomies 1q, based on the study of a t(1; 6) (q42.1; p24) family and the literature data, was performed. It was demonstrated that phenotypical manifestations of the trisomy are formed by nonspecific anomalies, due to imbalance as such, and by rather specific anomalies caused by triplication of a "critical segment".(More)