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1. |
Robert J. Gorlin Festschrift: Guest editor's note |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 575-575
M. Michael Cohen,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320470502
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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2. |
Foreword |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 576-576
Clarke Fraser,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320470503
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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3. |
Foreword: The making of a syndromologist |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 577-577
Victor McKusick,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320470504
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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4. |
Foreword |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 578-578
Paul Tessier,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320470505
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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5. |
Robert J. Gorlin revisited |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 579-580
M. Michael Cohen,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320470506
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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6. |
Sutural biology and the correlates of craniosynostosis |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 581-616
M. Michael Cohen,
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摘要:
AbstractThe purpose of this paper is to provide a new perspective on craniosynostosis by correlating what is known about sutural biology with the events of craniosynostosis per se. A number of key points emerge from this analysis: (1) Sutural initiation may take place by over lapping, which results in beveled sutures, or by end‐to‐end approximation, which produces nonbeveled, end‐to‐end sutures. All end‐to‐end sutures occur in the midline (e.g., sagittal and metopic) probably because embryonic biomechanical forces on either side of the initiating suture tend to be equal in magnitude. A correlate appears to be that only synostosed sutures of the midline have pronounced bony ridging. (2) Long‐term histologic observations of the sutural life cycle call into question the number of layers within sutures. The structure varies not only in different sutures, but also within the same suture over time. (3) Few, if any, of the many elegant experimental research studies in the field of sutural biology have increased our under standing of craniosynostosis per se. An understanding of the pathogenesis of craniosyn ostosis requires a genetic animal model with primary craniosynostosis and molecular techniques to understand the gene defect. This may allow insight into pathogenetic mechanisms involved in primary craniosynostosis. It may prove to be quite heterogeneous at the basic level. (4) The relationship between suture closure, cessation of growth, and functional demands across sutures poses questions about various biological relationships. Two conclusions are provocative. First, cessation of growth does not necessarily, or always lead to fusion of sutures. Second, although patent sutures aid in the growth process, some growth can take place after suture closure. (5) In an affected suture, craniosynostosis usually begins at a single point and then spreads along the suture. This has been shown by serial sectioning and calls into question results of studies in which the affected sutures are only histologically sampled. (6) Craniosynostosis is etiologically and pathogenetically heterogeneous. Known human causes are reviewed. Is craniosynostosis simply normal suture closure commencing too early? In hyperthyroidism, this is probably the case, but in Apert syndrome, true sutures in the sagittal and metopic regions fail to form ab initio. The actual mechanisms that result in pathologic synostosis, although incompletely understood, must be heterogeneous in nature. (7) Special topics are analyzed and discussed including fetal head constraint, the calvaria in Apert syndrome and holoprosencephaly, a critique of Moss's theory, calcified cephalohematoma, secondary cartilage, paradoxical craniosynostosis, and delayed suture closure. (8) The effect of craniosynostosis on the calvaria and the cranial base is discussed; it is shown that the relationship between the calvaria and the cranial base varies and reflects several different factors such as whether or not the basal portion of the coronal ring is involved and whether the synostosis is isolated or syndromic. (9) Simple craniosynostosis involving the coronal suture may produce significant effects on the midface. Restricted coronal suture growth is the primary effect, changes in the cranial base the secondary effect, and foreshortening of the midface the tertiary effect. The effects follow a temporal sequence. In general, the degree of midface shortening is a function of which suture is restricted from growing, how early growth restriction of the suture takes place, and how much time elapses before measuring the effects on the midface. This model of craniofacial change is only applicable to simple craniosynostosis, not to cases with complete coronal ring involvement or to syndromic cases such as Apert or Crouzon syndromes. © 1993 W
ISSN:0148-7299
DOI:10.1002/ajmg.1320470507
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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7. |
Growth pattern in the Apert syndrome |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 617-623
M. Michael Cohen,
Sven Kreiborg,
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摘要:
AbstractIn this paper, we demonstrate that a discernible and unique growth pattern characterizes the Apert syndrome. The keys to understanding Apert newborn measurement values are brain size and cranial configuration. Both true megalencephaly and coronal synostosis are present at birth. Thus, the head is unusually heavy and the cranium is disproportionately high. Mean newborn length and weight are above the normal 50th centile. Of our newborn patients, 16% exceeded 4,000 g in weight. Preterm infants were appropriate or slightly large for gestational age. A biphasic linear growth pattern was found. In childhood, deceleration of linear growth occurs so that most values fall between the 5th and 50th centiles. From adolescence to adulthood, deceleration becomes more pronounced. This 2‐step linear growth deceleration results in large measure from rhizomelic shortness of the lower limbs. Puberty takes place within the normal time frame. Although a disproportionate amount of the megalencephaly accounts for the dramatic increase in head height, the widely patent midline calvarial de fect, allowing the brain to expand anteriorly into the metopic area, and some increase in the head breadth permit the mean head circumference at birth to normalize slightly above the 50th centile. During the growth period, the head circumference was studied in surgically unoperated Apert patients from the 1960s and earlier. The natural history of the growing cranium consists of gradual deceleration in head circumference from slightly above the 50th centile at birth to within or at −2 SD later on. © 1993 Wiley‐Lis
ISSN:0148-7299
DOI:10.1002/ajmg.1320470508
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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8. |
Skeletal abnormalities in the Apert syndrome |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 624-632
M. Michael Cohen,
Sven Kreiborg,
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摘要:
AbstractThis paper reports on skeletal abnormalities in 38 patients with Apert syndrome. Analysis includes alterations in the shoulders, humeri, elbows, hips, knees, rib cage, and spine (except the cervical spine).Some patients had subacromial dimples and elbow dimples during infancy. Mobility at the glenohumeral joint was limited. Progressive limitation in abduction, forward flexion, and external rotation with growth was virtually a constant finding. The acromioclavicular joint was prominent and sometimes had an angular, pointed appearance clinically. This was often associated with atrophic musculature and winging of the scapulae. Limited elbow mobility was common and usually mild in degree. Decreased elbow extension was most often found with decreased flexion, pronation, and supination occurring less frequently. Limited elbow mobility did not change significantly with growth in contrast to the increasing severity observed in the shoulder joint. Short humeri were a constant finding beyond infancy and genua valga of mild degree were present in many cases.Radiographic examination strongly suggests that the Apert syndrome is characterized by a multiple epiphyseal dysplasia. We found delay in appearance of postnatal ossification centers, particularly in the humeral head, greater tuberosity, capitulum, and radial head. Subsequently, these bones became abnormal in shape. Glenoid dysplasia was observed consistently. The neck of the scapula was very short or absent and the inferior margin of the glenoid cavity was poorly demarcated from the infraglenoid tubercle. The humeral head became oblong in shape with relative prominence of the greater tuberosity which compromised abduction. In the elbow, the capitulum was often small and the radial head was flat in many instances. Subluxation or dislocation of the radial head or angulation of the radial neck was observed in some cases. In the hip joint of some adults, the femoral necks were short and broad with prominence of the greater trochanters. Less common radiographic findings are also discussed. © 1993 Wiley‐Liss, I
ISSN:0148-7299
DOI:10.1002/ajmg.1320470509
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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9. |
Cytogenetic evidence that the Saethre‐Chotzen gene maps to 7p21.2 |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 633-636
W. Reardon,
S. P. McManus,
D. Summers,
R. M. Winter,
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摘要:
AbstractEvidence for the location of the Saethre‐Chotzen acrocephalosyndactyly mutation on 7p21–22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre‐Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo in the father) and have the Saethre‐Chotzen syndrome. These observations support the localization of the Saethre‐Chotzen gene to 7p21.2. © 1993 Wiley
ISSN:0148-7299
DOI:10.1002/ajmg.1320470510
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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10. |
Saethre‐Chotzen syndrome with familial translocation at chromosome 7p22 |
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American Journal of Medical Genetics,
Volume 47,
Issue 5,
1993,
Page 637-639
Cheryl S. Reid,
Lydia E. McMorrow,
Donna M. McDonald‐McGinn,
Kimberly J. Grace,
Feliciano J. Ramos,
Elaine H. Zackai,
M. Michael Cohen,
Ethylin Wang Jabs,
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摘要:
AbstractChromosome analysis of a male infant and his mother with Saethre‐Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre‐Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region. © 1993 Wiley‐Lis
ISSN:0148-7299
DOI:10.1002/ajmg.1320470511
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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