摘要:

Cutis laxa is described in three cases: a 17‐year‐old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose‐hanging, wrinkled and without elasticity. X‐ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inhe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03038.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03039.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

In order to increase the efficiency of the Magiscan metaphase location and karyotyping system, its software and mode of operation have been changed. In the new multiple‐cell karyotyping method, interactions by the operator are only required for relocation and counting of metaphases, but not for karyotyping. Metaphases are located and their coordinates recorded automatically as before. The first metaphase in the list is relocated, displayed on the screen, and counted by the operator. It is then karyotyped automatically while the operator relocates and counts the next metaphase in the list. This procedure continues until an appropriate number of metaphases have been counted and karyotyped. Finally a composite karyotype is printed out. Each karyotype is represented by a column of 23 chromosome pairs (1–22 and XX or XY) and all columns are lined up next to each other. Most chromosomes are correctly classified into the composite karyotype. Minor structural abnormalities are detected by comparing pairs of homologues. Overlapped, close touching, and grossly abnormal chromosomes are often misclassified or rejected and shown beneath the classified chromosomes. A trained cytotechnician can easily detect even small chromosome abnormalities on the composite karyotype. A clinical feasibility study indicates that the procedure can be used for routine cytogenetic analy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03040.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A 15‐item checklist, including physical and behavioral features frequently observed in fragile X syndrome, was used in a prospective study of 188 mentally retarded males in order to identify males at risk for this syndrome. Of the 188 males, 19 were found to have the fragile X syndrome, while the remaining 169 males had no recognizable cause of their mental retardation, including normal chromosomes. Significant differences (p<0.01) were found between mentally retarded males with and without the fragile X syndrome with increased hyperactivity; shorter attention span; more tactile defensiveness, hand‐flapping, perseverative speech, and hyperextensibility; large ears and testes; higher frequency of simian creases or Sydney lines and plantar creases; and more positive family histories of mental retardation in the fragile X syndrome males. Multiple regression and discriminant analyses of the 188 males indicated several physical features were useful predictors for inclusion in the fragile X syndrome group. An overall correct classification rate of 93% was achieved based on 6 variables (plantar crease, simian crease, hyperflexibility, large testes, large ears, and a positive family history of mental retardation) that were entered into the discriminant equation. Therefore, our experience with a 15–item checklist suggests the potential of screening for the fragile X syndrome in mentally retarded males and that 6 of the 15 variables were particularly good predictors of this syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03041.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

In cases of fetal neural tube defects (NTD), termination of pregnancy without ascertainment of specific etiology may lead to provision of incorrect recurrence risks and erroneous diagnosis in future pregnancies. Four patients are presented who illustrate the etiologic diversity of neural tube defects. The patients were referred for prenatal diagnosis because of elevated maternal serum alphafetoprotein (AFP). All four chose pregnancy termination. Diagnostic methods included fetal ultrasound, amniocentesis for fetal karyotyping and amniotic fluid AFP/acetyl‐cholinesterase (AChE) and/or fetal karyotyping after delivery, and dysmorphology evaluation of the fetus after intact delivery. These cases highlight the benefits of fetal karyotype analysis and of an intact delivery and thorough clinical examination of the fetus when patients choose to terminate pregnancies with fetal anomalie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03042.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup‐shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup‐shaped. Premature central epiphyso‐metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone‐shaped metaphyses, and varus deformity of the tibio‐astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone‐shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritanc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03043.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features include prenatal and postnatal asymmetric growth deficiency, triangular and/or asymmetric facies, micrognathia, finger and/or toe syndactyly, clinodactyly, single transverse palmar creases, male genital anomalies, hypotonia and psychomotor retardation. This disorder is underdiagnosed because in 70% of cases the triploid cell line is only seen in fibroblasts. In cases in which a triploid cell line is found in lymphocytes, it usually occurs in less than 5% of cells. While some reports of diploid/triploid mosaicism have mentioned unusual skin pigmentary patterns, including hypomelanosis of Ito, it was only recently recognized that this is a helpful diagnostic clue in mosaic chromosome disorders. We report monozygotic twin girls with diploid/triploid mosaicism whose cutaneous pigmentary dysplasia led to their diagnosis.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03044.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Acrodysostosis is a rare syndrome characterized by growth retardation, peripheral dysostosis and mental deficiency. X‐rays reveal generalized shortening of metacarpals, metatarsals and phalanges, hyperplasia of the first ray of the feet and premature skeletal maturation. Occasionally abnormal interpedicular spinal spaces, increased mandibular angle and hearing loss have been observed. We report a 19‐year‐old woman and her daughter examined at birth and subsequently at 6 years of age. The clinical and radiological characteristics are those of acrodysostosis. The syndrome is easily recognized at birth. The generalized corporal shortening is progressive and could be due to premature closing of epiphyses. The finding of an affected mother and her daughter support the postulate that acrodysostosis is inherited as an autosomal dominant syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03045.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

This report presents a family with two individuals in two successive generations who were affected by annular pancreas and high duodenal obstruction. An argument for autosomal dominant transmission and implications for appropriate team management are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03046.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the fathe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03047.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY