摘要:

AbstractWe report on two brothers (in a sibship of three) with partial aniridia, cerebellar ataxia, and moderate mental retardation, with normal G‐banded chromosomes. Both present cerebellum hypoplasia; the younger also has congenital pulmonic stenosis. A review of the literature is presented. Cause is unknown, although the possibility of an autosomal recessive gene cannot be ruled ou

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300302

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cieavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomaiies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300303

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300304

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

年代:1988

数据来源: WILEY

摘要:

AbstractA study was made of the possible association of double nucleolus organizers (dNORs) with Turner syndrome. Occurrence of dNORs was determined using the silver staining method of Goodpasture and Bloom [1975]. In 45 control subjects, the incidence of dNORs was 8.8%. Studies were done on 33 Turner syndrome patients. In 28 cases with 45,X or 45,X/46,XX karyotypes, the incidence of the dNOR variant was 50%. Five cases of Turner syndrome with X rings or X isochromosomes were negative for dNORs. Analysis of the data indicates an association between the dNOR variant and the occurrence of Turner syndrome. It is proposed that the presence of the dNOR variant can increase the rate of nondisjunction of the X chromosome in meiosis or in mitotic divisions during early gestation.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300305

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

年代:1988

数据来源: WILEY

摘要:

AbstractDigital and palmar dermatoglyphics were examined in 29 men and 27 women with dementia of the Alzheimer type (DAT) and 112 age‐, sex‐, and racial group‐matched controls. Female patients had significantly (p<0.05) more accessory triradii and complete Sydney creases than controls; no dermatoglyphic differences were detected in the males. Separating the patients by age of onset prior to or after age 65 years did not help differentiate patients from controls by dermatoglyphic profile. This study failed to confirm either the previously reported dermatoglyphic differences between DAT patients and controls or the reported similarity of the dematoglyphic pattern of DAT to that of Down syndrome pat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300306

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

年代:1988

数据来源: WILEY

摘要:

AbstractNager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300307

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

年代:1988

数据来源: WILEY

摘要:

AbstractCerebral abnormalities are considered an obligatory manifestation of the Neu‐Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of the cerebellum, and other pathological changes. We present data on 3 cases with central nervous system anomalies, two of which have not been described previously, and summarize the literature on the subject. The problem of distinguishing type III lissencephaly is discusse

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300308

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe a male infant with signs of caudal deficiency sequence. In addition, he showed growth retardation, microcephaly, prominent forehead, bulbous nose tip, large dysplastic ears, hypospadia, partial sacral agenesis, and neurologic bladder dysfunction. Chromosome examination showed a terminal 7q deletion 46, XY, del(7)(pter→q32:). Four previous reported cases of 7q terminal deletion and signs of caudal deficiency are reviewed. Chromosome aberrations may, at least in some cases, be responsible for developmental defect

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300309

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on a patient with a lethal multiple pterygium syndrome who also had an unusual, bandlike web across one axilla and partial intestinal atresia. Umbilical cord wrapping with subsequent vascular compromise appears to be the most likely pathogenetic mechanism for the additional anomalies.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300310

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

年代:1988

数据来源: WILEY

摘要:

AbstractRecent progress in the classification, biochemistry, and molecular biology of peroxisomal disorders is reviewed from a clinical perspective. Diseases such as Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia, chondrodysplasia punctata, and Leber amaurosis share a common phenotype and involve deficiency of multiple peroxisomal enzymes. These disorders are associated with diverse metabolic abnormalities which are useful in pre‐ or postnatal diagnosis and distinguish these disorders from others such as X‐linked adrenoleukodystrophy, adult Refsum disease, hyperoxaluria type I, and acatalasemia. Peroxisome structure is difficult to quantify historically, since recent studies emphasize its developmental variability and tissue heterogeneity. The ability to manipulate this structure by dietary or pharmaceutical means provides a novel approach to therapy. At the molecular level, deficiency of peroxisomal enzymes responsible for fatty acid beta‐oxidation or ether lipid synthesis reflects enhanced protein degradation due to abnormal peroxisomes; messenger RNA for the beta‐oxidation enzymes is transcribed normally in peroxisomal disorders and can be increased by peroxisome proliferators. At least one integral structural protein of the peroxisome is synthesized normally in Zellweger syndrome. Hypotheses for the basic defect include defective regulation, uptake, or coenzyme stimulation of imported proteins, as well as defective biosynthesis. One clue to this defect may be a similar evolutionary history of peroxisomes and mitochondria which would explain their common alteration in Zellweger s

ISSN:0148-7299    

DOI:10.1002/ajmg.1320300311

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

年代:1988

数据来源: WILEY