摘要:

AbstractHere we report on a 39‐year‐old woman with severe mental retardation, short stature, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the Rubinstein‐Taybi syndrome. Following admission because of headache and anorexia, a bifrontal lobe neoplasm was excised and diagnosed as an angioblastic meningioma. The unusual tumor and aged appearance of the patient add 2 facets to the natural history of Rubinstein‐Taybi s

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370612

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

年代:1990

数据来源: WILEY

摘要:

AbstractThis report concerns a 14 year follow‐up of a patient whose clinical manifestations led to a diagnosis of Rubinstein‐Taybi syndrome; however, his intelligence is normal. Reappraisal resulted in a change of diagnosis to Saethre‐Chotzen syndrome. Overlapping manifestations in the 2 syndromes are disc

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370613

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

年代:1990

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370614

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

年代:1990

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370615

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

年代:1990

数据来源: WILEY

摘要:

AbstractThis review examines the Williams syndrome (WS) from an historical perspective, beginning with the early descriptions of idiopathic infantile hypercalcemia (IIH) and ending with some speculative ideas about a possible causative function of a recently discovered neuropeptide. The earliest reports of WS individuals are probably those which describe a “severe” subgroup of IIH and separate it from the epidemic of milder IIH reported in Post‐WWII Great Britain and Europe. Most of these latter cases apparently resulted from hyper‐vitaminosis D produced by excessive supplementation of government‐supplied infant foods. With more extensive recognition and reporting of this “severe” subgroup, the diagnostic constellation of IIH, mental deficiency, elfin face, and supravalvular aortic stenosis (SVAS) evolved as WS. More of these reports emphasized the physical and behavioral manifestations as the key diagnostic features, and the frequency of occurrence and relative importance of SVAS and IIH in WS decreased. Despite the diminished consequence of hypercalcemia, calcium and vitamin D have continued to dominate the investigation of the cause of infantile hypercalcemia and led to the proposal and confirmation of deficient calcitonin secretion in individuals with WS. Though calcitonin is probably pertinent only to infantile hypercalcemia, its alternative gene product, calcitonin‐gene‐related product, is an important neuropeptide with physiological effects in the central nervous system and cardiovascular systems which raise the possibility that it may be responsible for some of the man

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370616

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

年代:1990

数据来源: WILEY

摘要:

AbstractTwo sets of identical twins with Williams syndrome have been reported previously. We report on 2 additional sets of presumed identical twins with Williams syndrome. All 4 patients had the typical Williams syndrome facial appearance, growth deficiency, and developmental delay. None of the patients had supravalvular aortic stenoses; however, all were diagnosed as having probable distal pulmonary artery stenosis. In the set of twins in which serum calcium was measured, one twin had an elevated serum ionized calcium level. These 2 sets of twins further document the occurrence of Williams syndrome in identical twins. To our knowledge, there are no reported cases of concordance in dizygotic twins. This adds further support to the likelihood that Williams syndrome is a genetic disorder.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370617

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

年代:1990

数据来源: WILEY

摘要:

AbstractIn a series of 48 patients with Williams syndrome examined from 1984 to 1988, 3 physical manifestations were noted which have not been emphasized in previous reports of this condition. Unusual sacral creases were found in 25/48 patients, a linear array of hemangiomas (nevus flammeus) on the back in 3/48, and limitation of supination in 5/48.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370618

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

年代:1990

数据来源: WILEY

摘要:

AbstractReports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years.Adults in our study had progressive multi‐system medical problems. Cardiovascular complications were common (12/13) including hypertension (8), supravalvular aortic stenosis (9), aortic hypoplasia (3), pulmonic artery stenosis (4), peripheral stenoses (3), and mitral valve prolapse (2). Joint limitation (12/13) was progressive, often accompanied by kyphoscoliosis and lordosis. Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and bladder diverticula and vesicoureteral reflux in 3. Gastrointestinal problems included obesity (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4). Hypercalcemia was documented in 5 patients, although others had hypercalcemic symptoms (abdominal pain, polyuria, and constipation). One 45‐year‐old man had parathyroid hyperplasia.Previous reports likewise document significant morbidity. Thus, Williams syndrome in an adult appears to dictate aggressive evaluation and monitoring. Investigation of calcium metabolism should be undertaken in each adult WS pa

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370619

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

年代:1990

数据来源: WILEY

摘要:

AbstractIt has been claimed that Williams syndrome (WS) children have an unusual command of language reminiscent of “cocktail party speech.” An analysis of the spoken language of 43 school‐age WS children showed a sub‐group (37% of the sample) who produced significantly more speech, more complex utterances, more social phrases and clichés, and more complex communicative functions, when compared with the rest of the WS group. Thus, hyperverbal speech is not a consistent manifestation of the syndrome. The speech of 20 WS children was compared with the speech of mentally handicapped control children. There were no differences in the quantity of language produced, in its grammatical complexity, or in the range and frequency of communicative functions that were expressed. But more of the WS children had an over‐familiar manner and used more adult vocabulary and social phrases. It is suggested that their speech appears so different from the speech of other mentally handicapped children primarily because of these vocabulary and stylistic differences, and because of the contrast between their verbal abilities and their more impaired visuo‐spatial and

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370620

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

年代:1990

数据来源: WILEY

摘要:

AbstractThe general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neu‐rodevelopmental disoder, a specific neuro‐psychological profile, and abnormal brain organization. We report on a dissociation between language and cognitive functions in Williams syndrome adolescents, in contrast to age‐and IQ‐matched Down syndrome adolescents. The Williams syndrome individuals exhibit an unusual fractionation of higher cortical functioning, with marked cognitive deficits, but selective sparing of syntax. Differences in spatial cognitive abilities in the 2 groups are investigated, showing peaks and valleys of abilities specific to Williams syndrome individuals. These neurobehavioral profiles are explored in light of new evidence regarding neurologic and neuroanatomical differences between the 2 matched groups of adolescents. Results from these combined studies should help clarify the neural systems that mediate language and cognitive fu

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370621

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

年代:1990

数据来源: WILEY