摘要:

AbstractThe teratogenicity of vitamin A has been repeatedly reported in the literature and confirmed on the basis of several cases of adverse pregnancy outcome associated with maternal isotretinoin exposure.We report a case which shows a striking similarity with this syndrome, but the child was born to a mother who took a normal supplementation of vitamin A during pregnancy.The differential diagnosis is discussed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270202

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

年代:1987

数据来源: WILEY

摘要:

AbstractSpouse–spouse, sib–sib, and parent–offspring correlations were calculated for urinary, plasma, and intracellular sodium levels on over 1,900 persons aged 3–86 years in 98 Utah kindreds. For 36 hours prior to their clinic visit, 31% of the sample was salt‐loaded with salt tablets, while the rest followed their normal diet. For those on their normal diet, urine creatinine‐, age‐, and sex‐adjusted urinary sodium excretion from a timed 12‐hour overnight sample showed similar and significant correlations between spouses (r = .29), sibs less than 20 years old (r = .38), and parent–offspring pairs for offspring less than 20 years old (r = .29). This contrasted with the lower correlations between sibs 20 years of age and older (r = .10) and parent–offspring pairs for offspring 20 years of age and older (r = .13), presumed to live in different households. Adult plasma sodium sib–sib (r = .13) and parent–offspring (r = .15) correlations were similar to the urinary sodium correlations, while the spouse–spouse (r = .48), the sib–sib (r = .64), and the parent–offspring (r = .63) correlations for those presumed to live in the same household nearly doubled. Intracellular sodium correlations for the adult sibs (r = .32) and offspring (r = .36) were over twice as large as for urinary or plasma sodium, although the spouse–spouse correlation (r = .37) remained large also. Using the salt‐loaded families, only the sib–sib and parent–offspring correlations for those sibs and offspring who were less than 20 years of age for plasma sodium and the spouse–spouse correlation for intracellular sodium changed (decreased). These results indicate that there is a large environmental component not only for urinary sodium excretion but also for plasma sodium concentration, and that plasma sodium may also reflect changes in dietary sodium intake. Intracellular sodium concentration, on the other hand, seems to have a larger genetic component, although because the spouse–spouse correlations were large and decreased upon salt‐loading, there also appears to be an environmental component that can modify the geneticall

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270203

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on 11 cases of isochromosome 12p mosaicism (or Pallister mosaic aneuploidy syndrome) in which the isochromosome is usually absent in cultured lymphocytes but present in fibroblasts. The patients range in age from a 22‐week‐gestation fetus to a 45‐year‐old man. They have a distinct pattern of anomalies which enables one to make a diagnosis based on clinical manifestations alone. Craniofacial manifestations include “coarse” face with prominent forehead, spars‐ity of scalp hair, hypertelorism, epicanthal folds, flat bridge of nose, and highly arched palate. Affected newborn infants are profoundly hypotonic with sparsity of scalp hair especially bitemporally and a prominent forehead. Most have accessory nipples. Birth weight and growth parameters are usually normal; however, some newborn infants are unusually large. In infancy, the facial appearance becomes “coarse,” hypotonia persists, and seizures may occur. As adults, growth may be normal, scalp hair is thicker and the mandible becomes prominent. Most have a generalized pigmentary dysplasia which may be evident with a Wood's lamp only. All cases have been sporadic and there is no consistent pattern of adva

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270204

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

年代:1987

数据来源: WILEY

摘要:

AbstractFour new cases are reported in which mosaicism for a supernumerary chromo‐some interpreted as an isochromosome for 12p [i(12p)] is present. In 2 cases seen in early childhood the mosaicism was present at a low level in peripheral blood and was documented in one case to be present with a higher frequency in fibroblast cultures from skin. These cases have clinical features compatible with those in previously reported cases of the Teschler‐Nicola/Killian syndrome, many of whom have now been found to be mosaic for a similar i(12p) chromosome in fibroblast cultures. One case was diagnosed prenatally from amniotic fluid culture. The fourth case was a neonatal death, in which fibroblast cultures were established from muscle and increased activity of LDH‐B was demonstrated, supporting the theory that the origin of the additional chromosome was from 12p. Loss of the cell line with the supernumerary chromosome occurs after long‐term fibroblast culture. Previously unpublished studies showing increased LDH‐B activity in case 1 of Pallister‐Mosaic syndrome originally reported in 1977 are also reported. It is of interest that our 2 cases which did not survive birth and one previously published case diagnosed prenatally had diaphragma

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270205

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on a 3–8/12‐year‐old boy with the Pallister/Teschler‐Nicola/Killian syndrome and previously unreported bilateral skeletal anomalies consisting of small feet and short but otherwise normal humeri, ulnae, femora, and fibulae. His peripheral blood chromosomes were normal; however, 47,XY,+ i(12p) was found in 100% of fibr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270206

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

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270207

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

年代:1987

数据来源: WILEY

摘要:

AbstractThe dyssegmental dysplasias are lethal forms of neonatal short‐limbed dwarfism in which vertebral segmentation defects and short, thick, bowed long bones are the prominent radiographic features. Clinically, unusual facies, short neck, narrow thorax, cleft palate, and reduced joint mobility are commonly seen. To date, 18 cases of dyssegmental dysplasia have been reported. Reports of three pairs of affected sibs suggest autosomal recessive inheritance. We have studied eight additional cases of dyssegmental dysplasia, including one pair of affected sibs. Clinical, radiographic, and histologic examination of these new cases and review of the literature demonstrates the presence of at least two distinct forms of dyssegmental dysplasia. The milder form, “dyssegmental dysplasia, type Rolland‐Desbuquois,” is characterized clinically by frequent survival beyond the newborn period and by distinct radiographic changes resembling Kniest dysplasia. The severe form, “dyssegmental dysplasia, type Silverman‐Handmarker,” is charac‐terized by stillbirth or death within the first few days of life and by distinct and more severe radiographic changes. In addition, we have demonstrated chondroos‐seous morphologic differences between the two disorders by light and electron microscopy. We conclude that there are at least two forms of dyssegmental dysplasia, each autosomal recessive, which can be delineated on clinical, radio‐graphic and

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270208

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on a family in which a mother and her 2 offspring presented with bilateral radial defects and absent thumbs. In addition, Duane anomaly was present in both offspring, one of whom also had anal stenosis. Clinical investigation showed no skeletal, cardiac, or urogenital abnormalities. Autosomal dominant transmission of radial defects is suggested, with Duane anomaly and anal stenosis representing manifestations of the same gene.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270209

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270210

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

年代:1987

数据来源: WILEY

摘要:

AbstractThe Registry of Cytogenetic Abnormalities and Phenylketonuria (ReCAP) is a multicenter collaborative registry of information on patients with constitutional cytogenetic abnormalities or hyperphenylalaninemia (HPA). Data are entered by microcomputer at four contributing centers. Records are then electronically trans‐mitted to the coordinating center, where the composite cytogenetic and hyperphen‐ylalaninemia databases are maintained on a mainframe computer. A set of programs, known as the ReCAP ISCN Translator, is used to create additional database records describing in detail the chromosome abnormalities present in each patient. The ReCAP computer system permits rapid and flexible retrieval of cases on the basis of any combination of laboratory, clinical, psychometric, or genetic characteristics contained within the databases. Special procedures protect patient confidentiality and assure that ReCAP data are of consistently high quality. Qualified investigators may use ReCAP as a resource for a variety of scientific stud

ISSN:0148-7299    

DOI:10.1002/ajmg.1320270211

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

年代:1987

数据来源: WILEY