摘要:

AbstractAn increased prevalence of mitral‐valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers‐Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral‐valve prolapse by ausculation and two‐dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, sensorineural hearing loss, eye defects, and a family history of Stickler syndrome. Twenty‐six patients (45.6%) had mitral‐valve prolapse, including 11 of 22 females (50.0%) and 15 of 35 males (42.9%). The age range of our study population was 4 to 60 years. Prevalence of mitral‐valve prolapse did not increase with age. Nine patients (34.6% of those with mitral‐valve prolapse) had the click‐murmur syndrome; only one of them was symptomatic.Because of the growing list of complications associated with mitral‐valve prolapse, all patients with Stickler syndrome should be evaluated by auscultation, electrocardiogram, and echocardiography. Those with mitral‐valve prolapse should be advised to have periodic follow‐up and to instruct physicians caring for them of their need for antibiotic prophylaxis with cert

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240302

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240303

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

年代:1986

数据来源: WILEY

摘要:

AbstractDuplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high‐resolution technique

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240304

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

年代:1986

数据来源: WILEY

摘要:

AbstractRecently, a new clinically recognizable syndrome resulting from a small interstitial deletion of 17p [del(17)(p11.2p11.2)] was described in ten unrelated patients. We have identified six additional patients with similar cytogenetic and phenotypic abnormalities. Consistent clinical manifestations include 1) brachycephaly with a broad face and nasal bridge, 2) flat midface, 3) short, broad hands, and 4) mental retardation associated with hyperactivity and often self‐destructive behavior. The craniofacial and hand anomalies are reminiscent of several craniosynostosis syndromes. Most patients also had growth deficiency and several other (more variable) congenital malformations. Chromosome studies with special attention to 17 should be performed in any patient with a similar phenotyp

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240305

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

年代:1986

数据来源: WILEY

摘要:

AbstractAn infant was born with osteogenesis imperfecta (OI) and died after 7 days. In addition, there were amniotic constriction bands and amputations of several digits of the upper and lower limbs. The radiologic picture was suggestive of type III OI. Histomorphometric analysis of the bone showed a trabecular bone volume of 15.1% compared to 26.9% for age‐matched controls. This was due to a decreased apposition of matrix by the osteoblasts. Because abnormal collagen synthesis has been suggested as the underlying defect in most forms of OI, collagen studies were undertaken using intact tissues.Bone and skin collagen solubilities were strikingly reduced. Shortened type I collagen molecules, representing 25% of the total type I collagen, were produced by pepsin digestion of the demineralized bone matrix. The molecular weight of the shortened collagen, was 10 kd lower than normal for both the α1 and α2 chains as determined by gel electrophoresis. The bone acetic acid‐soluble collagen showed few shotened α‐chains. Twenty‐five percent of the acid‐soluble bone collagen was cleaved into shortened molecules by a pepsin digestion. The shortened α1 chain was purified by high‐performance liquid chroma

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240306

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe a new type of bone dysplasia, the „acromicric dysplasia”︁, based on the study of six patients. This dysplasia is characterized clinically by mild facial anomalies, markedly shortened hands and feet, and growth retardation that is severe in most of cases.Roentgenograms of the hands are characteristic: the metacarpals and the phalanges are short and stubby, the proximal portion of the last four metacarpals are slightly pointed with an external notch on the 2nd metacarpal and an internal notch on the 5th metacarpal, similar to pseudoepiphyses. The shape of the epiphysis and the metaphysis of the long bones is almost normal, except for a slight deformation of the femoral heads in some patients. No signs of visceral storage were found, which rules out geleophysic dwarfism. The histological, histochemical, and electron microscopical examination of the growth cartilage in two cases showed similar lesions: disorganization of the growth zone with islands of cells, some of them degenerated; abnormal organization of collagen forming thick rims around the cells and wide fibers in the interterritorial matrix; large accumulation of glycogen in most chondrocytes.Both sexes are affected; all patients are isolated cases from normal fam

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240307

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

年代:1986

数据来源: WILEY

摘要:

AbstractThe recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like‐sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one famil

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240308

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

年代:1986

数据来源: WILEY

摘要:

AbstractIsolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white families with 17 relatives in several generations affected with CP, including submucous CP and bifid/absent uvula. We could find no evidence of a cleft syndrome. In one family, the pattern is consistent with autosomal dominant inheritance. In 2 families, the pattern is consistent with X‐linked recessive inheritance. The specific findings and their implications for family evaluation and genetic counseling are discusse

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240309

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

年代:1986

数据来源: WILEY

摘要:

AbstractThe finding of trisomy 20 mosaicism in amniotic fluid is a cause of considerable anxiety for both physicians and parents. Although the significance of this finding is still not clear, some reassurance can be given to prospective parents, since the outcome has been normal in all reported pregnancies carried to term. Follow‐up information on psychomotor development of these infants is needed in order to provide better genetic counseling to these families. We have followed three infants who have had normal growth and psychomotor development up to approximately 2 year

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240310

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

年代:1986

数据来源: WILEY

摘要:

AbstractTemporal variation in traits has long been a central theme in epidemiology. However, human geneticists have largely avoided this topic. Recently, several authors have shown how temporal variation in relative‐to‐relative covariances can be accommodated within the framework of variance components analysis. The present paper attempts to clarify the mathematics implicit in their approach. A stochastic mechanism is discussed that causes covariances to converge or diverge exponentially fast as relatives cohabit or lead separate li

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240311

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

年代:1986

数据来源: WILEY