ISSN:0148-7299    

DOI:10.1002/ajmg.1320190302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractTo 468 women with epilepsy enrolled in the study, 171 children were born and evaluated prospectively. The mothers in this group were characterized by low socioeconomic status, high frequency of tonic‐clonic generalized seizures, and use of combinations of anticonvulsants. Approximately 30% of infants exposed to diphenylhydantoin in utero had minor craniofacial and digital changes. The infants did not show an increased rate of growth retardation, mental retardation, or major malformations. It is suggested that the nature of the association of birth defects and maternal epilepsy is complex and that the teratogenicity of anticonvulsant drugs plays only a minor role in this association. The sample size necessary to demonstrate a two‐ to threefold increase in malformations is beyond the capability of a single cen

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractAs part of a prospective study of the teratogenicity of anticonvulsant drugs, hand radiographs were obtained on 51 children born to epileptic mothers. The phalanges and metacarpals were measured and a diagnosis of distal digital hypoplasia (DDH) was made if the distal phalangeal to other digital bone ratio was more than 2 SD below the mean for age in at least two of the digits. By these criteria, roughly 30% of infants exposed to diphenylhydantoin in utero demonstrate DDH; this was in close agreement with the clinical diagnosis of DDH. The data suggest that there is no familial tendency to the expression of this teratogenicity, there is no sex influence, there is no difference between exposure to diphenylhydantoin alone and diphenylhydantoin in combination with other anticonvulsants, and that the digital changes occur most often in the absence of other sequelae of in utero exposure to diphenylhydantoin.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractCleft lip with or without cleft palate (CL/P) is the most common congenital malformation reported among infants of epileptic mothers. This study sought to examine the relative roles of anticonvulsant teratogenicity and other factors responsible for this association. Among 175 families with a proband with isolated CL/P, there were 13 parents with epilepsy and a high frequency of other family members with CL/P and epilepsy. Evaluation of the 13 cases suggested that teratogenicity of anticonvulsant drugs was not the primary factor responsible for the observed association of maternal epilepsy and clefting. Among 140 families with a proband with clefting other than CL/P, there were no instances of parental epilepsy observed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractControversy over the existence of a fetal hydantoin syndrome continues in medical literature despite numerous recent clinical studies describing additional patients with a characteristic pattern of abnormalities. Resistance to its acceptance as a clinical entity seems to stem from the variability of the component malformations seen in this syndrome. To examine this variability in a controlled experimental situation, we utilized data obtained in previously reported studies of a mouse model of the fetal hydantoin syndrome.In the mouse, prenatally exposed fetuses had congenital anomalies similar to those observed in the human syndrome. In terms of overall frequency of malformation there were no differences among three inbred mouse strains. However, when considering the individual rates of the 11 most common malformations, considerable differences were noted among the strains. These strain differences in the pattern of malformations appear to be related to genotypic differences in susceptibility to specific malformations. These results provide one possible explanation for the variability observed in the human fetal hydantoin syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractWe evaluated seven children who had been exposed to sodium valproate (or valproic acid) in utero. A consistent facial phenotype was observed in all seven in addition to other birth defects in four. The facial changes consisted of epicanthal folds which continued inferiorly and laterally to form a crease or groove just under the orbit, flat nasal bridge, small upturned nose, long upper lip with a relatively shallow philtrum, a thin upper vermillion border, and downturned angles of the mouth. Hypospadias, strabismus, and psychomotor delay were found in two males; two children had nystagmus and two had low birth weight.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractWe describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good‐natured facial appearance, a dysostosis‐multiplexlike bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small ha

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractOn the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good‐natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmissio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractWe report on a 12‐year‐old girl with acrofacial dysplasia, growth retardation, joint contractures, mitral valve incompetence and focal hepatic storage of material reacting histochemically as glycoprotein. The patient's phenotype resembles that of patients with geleophysic dysplasia but differs with respect to facial appearance, milder changes of hand bones and normal capital femoral epiphyses. It is undecided if her disorder is part of a wider phenotypic spectrum of geleophysic dysplasia or a different ent

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY