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1.
We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. Review of the literature depicted phenotypic variability of BGS. The presence of affected sibs the offspring of consanguineous parents confirms autosomal recessive inheritance. The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. Awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS. 相似文献
2.
A retrospective review of 148 patients with ulnar polydactyly was conducted to analyze the types, patterns of involvement, associated anomalies, treatments, and outcomes of this malformation. The hands only were involved in 123 patients, both hands and feet in 20 patients, and five patients had mixed radial and ulnar polydactyly. Ulnar polydactyly was more prevalent among males. Among African Americans, the condition was often bilateral. When unilateral, ulnar polydactyly occurred more often on the left side. The racial distribution was 103 African Americans (70 percent), 37 Caucasians (25 percent), four Native Americans, three Latin Americans, and one Asian. Five types were encountered: type I cutaneous nubbin, type II pedunculated digit, type III articulating digit with fifth metacarpal, type IV fully developed digit with sixth metacarpal, and type V polysyndactyly. The distribution of types in order of frequency was type II, III, V, I, and IV. Types I and II ulnar polydactyly combined were more prevalent (82 percent) than types III, IV, and V (18 percent). Types I and II were more common among African Americans. Types III, IV, and V ulnar polydactyly occurred more frequently among Caucasians, but these were slightly less prevalent than types I and II in this racial group. Five patients were syndromic; four were Caucasians, and one Asian. Most cases of ulnar polydactyly of the hand were treated by ligation (71 percent) in the nursery, whereas polydactyly of the foot was more often referred to a specialist to be treated by surgical ablation (92 percent). Treatment complications occurred more frequently in the hands than in the feet. The complication rate after ligation of ulnar polydactyly of the hand was 23.5 percent. The two main complications were tender or unacceptable nubbins and infections. 相似文献
3.
Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable. 相似文献
4.
The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations. The lesions were qualitatively similar in chondroectodermal dysplasia and SRP I: regular concave ossification line, short, slightly irregular columns, regularly dispersed hypertrophic chondrocytes. In SRP III, the ossification line was irregular and the hypertrophic cells had a discontinuous distribution in clusters. No amylase resistant PAS intracytoplasmic inclusions were found. Short, slightly or markedly irregular primary trabeculae, some of them with wide cartilaginous cores, tongue prolongations and islands of cartilage situated along the periost were found in chondroectodermal dysplasia, SRP I and III. The case of polydactyly without other skeletal abnormalities had a normal morphology of the growth plate. These data suggest that there is a relationship between chondroectodermal dysplasia and SPR type I, and that SRP type III is distinct from SRP type I. 相似文献
5.
Witters I Moerman P Natens R Van Assche FA Fryns JP 《Genetic counseling (Geneva, Switzerland)》2002,13(2):147-149
In this report we describe a 17 weeks old female fetus with a lumbosacral meningocoele, multicystic renal dysplasia (Potter type IIb) and postaxial polydactyly type A at the left hand and left foot. There was no hepatic fibrosis. Although multicystic renal dysplasia and postaxial polydactyly are often present in the Meckel syndrome, a lumbosacral neural tube defect is not a typical finding in this syndrome. 相似文献
6.
Bellovits O 《Anthropologischer Anzeiger; Bericht über die biologisch-anthropologische Literatur》2003,61(4):413-419
Polydactyly is one of the most frequently observed human congenital limb malformations. Sporadic cases of polydactyly have been described, but most show an autosomal dominant pattern of inheritance. The purpose of this study was to investigate the frequency of polydactyly among children born between 1980 and 1997 in Hungary. The predominance of the postaxial type over the preaxial one was less than expected. These malformations affected significantly more boys than girls. The proportion of children with low birth weight affected by polydactyly was higher than expected. Among mothers giving life to offspring with polydactyly, the prevalence was high in the older age group. We analysed the regional distribution in Hungary and the twin frequency in connection with polydactyly. From our results comparing it to the current literature data we made conclusions about the possible causes of the development of polydactyly. 相似文献
7.
Polydactyly has an incidence in the American Indian twice that of Caucasians. A minimum estimate of this incidence is 2.40 per 1,000 live births. Preaxial type 1 has an incidence three to four times that reported for Caucasians or Negroes. The overall sex ratio in Indians is distorted with more males affected than females. The preaxial type 1 anomaly has a strong predilection for the hands and always is unilateral in contrast to postaxial type B where more than one-half are bilateral. The evidence to date, consisting of varying incidences of specific types of polydactyly among American whites, Negroes, and Indians in varying enviroments, suggests different gene-frequencies for polydactyly in each population. The incidence in Indians with 50% Caucasian admixture suggests that the factors controlling polydactyly are in large part genetically determined. Family studies and twin studies reported elsewhere offer no clear-cut genetic model which explains the highly variable gene frequencies. 相似文献
8.
Male mice heterozygous for the dominant polydactyly gene Pdn (Polydactyly Nagoya) were crossed with normal or heterozygous females of the same strain. Pregnant females were treated with 5 mg/kg of cytosine arabinoside (Ara-C) on day 12 of gestation. The offspring were removed on day 18 of gestation and examined for external malformations, and the fore- and hindlimbs were examined by means of bone- and cartilage-stained cleared specimens. In +/+ x Pdn/+ matings, Pdn/+ fetuses, bearing preaxial polydactyly of the distal phalangeal type in the hindlimb and deformity of the 1st digit in the forelimb, were obtained in about 50% of the nontreated group. In treated fetuses, however, the incidence of polydactyly and deformity of the 1st digit decreased to 1.4 and 10.1%, respectively. Nontreated Pdn/Pdn fetuses exhibited preaxial polydactyly of the duplicated or triplicated metacarpal/metatarsal type both in the fore- and hindlimbs. In the treated Pdn/Pdn fetuses, the number of preaxial extra digits decreased in both limbs. Some hindlimbs of the treated Pdn/Pdn fetuses exhibited five metatarsals, normally. In the vitally stained specimens at 6 and 24 hours after injection of Ara-C, preaxial marginal necrotic zones (fMI) were observed in almost all of the treated embryos from +/+ x Pdn/+ matings. However, approximately half of the embryos did not exhibit fMI in the nontreated control group at the same stage. Those embryos deficient in fMI were regarded as Pdn/+. These findings indicated that a subteratogenic dose of Ara-C prevented the genetic expression of polydactyly in almost all Pdn/+ and some cases of Pdn/Pdn mice.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
9.
Zebin Zhang Changsheng Nie Yaxiong Jia Runshen Jiang Haijian Xia Xueze Lv Yu Chen Junying Li Xianyao Li Zhonghua Ning Guiyun Xu Jilan Chen Ning Yang Lujiang Qu 《PloS one》2016,11(2)
Polydactyly is one of the most common hereditary congenital limb malformations in chickens and other vertebrates. The zone of polarizing activity regulatory sequence (ZRS) is critical for the development of polydactyly. The causative mutation of polydactyly in the Silkie chicken has been mapped to the ZRS; however, the causative mutations of other chicken breeds are yet to be established. To understand whether the same mutation decides the polydactyly phenotype in other chicken breeds, we detected the single-nucleotide polymorphism in 26 different chicken breeds, specifically, 24 Chinese indigenous breeds and 2 European breeds. The mutation was found to have fully penetrated chickens with polydactyly in China, indicating that it is causative for polydactyly in Chinese indigenous chickens. In comparison, the mutation showed no association with polydactyly in Houdan chickens, which originate from France, Europe. Based on the different morphology of polydactyly in Chinese and European breeds, we assumed that the trait might be attributable to different genetic foundations. Therefore, we subsequently performed genome-wide association analysis (GWAS) to locate the region associated with polydactyly. As a result, a ~0.39 Mb genomic region on GGA2p was identified. The region contains six candidate genes, with the causative mutation found in Chinese indigenous breeds also being located in this region. Our results demonstrate that polydactyly in chickens from China and Europe is caused by two independent mutation events that are closely located in the chicken genome. 相似文献
10.
蒙古国喀尔喀部蒙古族4项群体指趾遗传学特征研究 总被引:1,自引:0,他引:1
在内蒙古民族大学调查了160例(男66例,女94例)来自蒙古国的喀尔喀蒙古族留学生的拇指类型、环食指长、指甲形状、足趾长4项群体指趾遗传学特征。研究结果:1)直型拇指率为44.38%,环指长率78.13%,指甲形状长型率58.75%、方型率6.88%、扁型率34.38%,足趾类型拇趾长率35.00%;2)指甲形状出现率性别间差异具统计学意义,两两特征间均未表现出明显相关关系;3)与我国10个蒙古族族群相比,多数差异具有统计学意义。 相似文献
11.
Surgically resected thumbs in preaxial polydactyly were submitted to anatomic dissection to detect a triphalangeal thumb. Radiologically, two particular categories of thumbs with duplication at the metacarpophalangeal joint were seen. The surgically excised thumbs of either the radial or the ulnar member were preserved for dissection. Depending on the number of phalanges as well as on osteocartilaginous structures, the thumbs were classified into three groups. In the first group, the thumbs consisted of three phalanges but had absent joint formation between the phalanges and metacarpal. The second group consisted of three phalanges with two well-formed joints between them. The third group of thumbs also had three phalanges but had only one interphalangeal joint between them. In all three groups, morphologic features and clinical criteria are discussed. 相似文献
12.
De Smet L 《Genetic counseling (Geneva, Switzerland)》2007,18(2):251-254
A rare polydactyly of the foot, mixed central and pre-axial type, is described; no other dysmorphic features were present. Early surgery was performed with good results. 相似文献
13.
F. R. Vargas E. Roessler Karin Gaudenz E. Belloni Alexander S. Whitehead Peader N. Kirke James L. Mills George Hooper Roger E. Stevenson Isabel Cordeiro Patricia Correia Temis Felix Rani Gereige Michael L. Cunningham Sonia Canún Stylianos E. Antonarakis Tom Strachan Lap-Chee Tsui Stephen W. Scherer M. Muenke 《Human genetics》1998,102(4):387-392
14.
Başgül Yiğiter A Güdücü N Kavak ZN Işçi H Elçioğlu N 《Genetic counseling (Geneva, Switzerland)》2012,23(2):231-237
Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented at the 19th week of pregnancy for amniocentesis because of maternal age. During ultrasound pre-axial synpolydacytly, a short and ovoid tibia, nuchal edema, vertebral irregularities, hypoplastic thorax with short ribs and talipes were detected. All of the extremities were under the 5th percentile. Thorax-abdomen ratio was 0,56. The family was counselled for a diagnosis of lethal SRPS. After termination of pregnancy, radiological and histopathological examination allowed us to reach the diagnosis ofMajewski syndrome (SRPS type II). SRPSs are a continuous spectrum of both lethal and nonlethal forms. Prenatal diagnosis and termination depending on ultrasound findings should be done very precociously considering different phenotypic expressions, even in families previously affected by a lethal SRPS. 相似文献
15.
Ewa Gustafsson Peter W. Johnson Mats Hagberg 《Journal of electromyography and kinesiology》2010,20(1):127-135
The aim of this study was to evaluate thumb postures, thumb movements and muscle activity when using mobile phones for SMS messaging and to determine whether there were differences in these exposures (a) across various mobile phone tasks, (b) between gender and (c) between subjects with and without musculoskeletal symptoms in shoulders and upper extremities. Fifty-six young adults (15 healthy and 41 with musculoskeletal symptoms) performed a series of distinct tasks on a mobile phone. Muscular load in four forearm/hand muscles in the right arm and the right and left trapezius muscles were measured using electromyography (EMG). Thumb movements were registered using an electrogoniometer. The results showed that postures (sitting or standing) and the type of mobile phone task (holding the phone versus texting) affected muscle activity and thumb positions. Females compared to males had higher muscle activity in the extensor digitorum and the abductor pollicis longus when entering SMS messages and tended to have greater thumb abduction, higher thumb movement velocities and fewer pauses in the thumb movements. Subjects with symptoms had lower muscle activity levels in the abductor pollicis longus and tended to have higher thumb movement velocities and fewer pauses in the thumb movements compared to those without symptoms. 相似文献
16.
A spontaneous postaxial polydactyly, similar to type B in humans, was found in a partially inbred ICR mouse strain. The supernumerary digit could be detected grossly as early as day 14 of gestation. The incidence of polydactyly decreased with increasing gestational age. All-trans retinoic acid (RA) administered on day 10 or 11 of gestation, but not on day 9, increased the incidence of polydactyly at each gestational day examined. The day 18 levels of polydactyly were greatest after day 10 treatment. No clear dose-response relationship was observed in term fetuses following treatment on day 9, 10, or 11. RA administered on day 10 produced extra digits which were morphologically more advanced than those in the untreated controls. RA, given to the inbred C57B1/10 strain, produced low levels of polydactyly if administered on day 9, but not on day 10 or 11. F1 embryos, from reciprocal crosses between the two strains, were intermediate in response to RA. On day 14, cell death in the postaxial marginal mesoderm was apparent in all protopolydactylous embryos examined, whether treated or untreated. The supernumerary digits varied in size on day 14. The smaller digits appeared to be filled with necrotic mesodermal cells, whereas the larger digits had a necrosis-free area. The size of the extra digit on day 14 seemed to be the most important factor in the persistence of the digit until day 18. 相似文献
17.
Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly. 总被引:1,自引:1,他引:0
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I M Orioli 《American journal of human genetics》1995,56(5):1207-1211
The unclear pattern of inheritance of postaxial polydactyly prompted this search for evidence of imprinting or change of expression in males and females using material of the Latin American Collaborative Study of Congenital Malformations. The frequency of affected offspring for 196 fathers with polydactyly was compared with that for 233 mothers with the same condition, stratified according to African and non-African ancestry. The postaxial polydactyly prevalence rate among the offspring of affected black fathers (44%) was larger than that in the group of affected black mothers (31%), with no difference between affected nonblack fathers (34%) and affected nonblack mothers (33%). The sex ratio (.51) observed in 631 black propositi and in 829 nonblack propositi with polydactyly (.58) could be a further indication of etiologic heterogeneity for polydactyly between these two ethnic groups. The segregation distortion in favor of affected among the offspring of affected black fathers could be interpreted as the effect of a sex-linked recessive modifier gene acting during gametogenesis on an autosomal dominant polydactyly gene, this modifier being more frequent in Africans. 相似文献
18.
19.
Murphy KA 《American journal of physical anthropology》1999,108(3):311-319
Human burials, dated AD 1100-1500, were examined from the Iron Age site of Simbusenga, located some 35 miles northwest of Victoria Falls in Zambia. Pedal polydactyly was discovered in the fragmentary remains of a young adult of indeterminate sex aged 14-25. The preaxial form of polydactyly is indicated with bilateral involvement of the first metatarsals. There is incomplete hypoplastic duplication of both first metatarsals with broad heads for the metatarsal-phalangeal joints. No digital malformations were found in the other seven individuals with feet and/or hands from the site. Several studies point to autosomal dominance for cases of isolated polydactyly, but inheritance and patterning of preaxial polydactyly are still incompletely understood. The condition is also found in conjunction with genetic malformation syndromes such as Acrocephalypolysyndactyly, Lambotte, Oro-facio-digital, and VATER. High frequencies of polydactyly are reported for African and African-American populations, but further analysis reveals that the bulk of previously reported cases of polydactyly are representative of the postaxial form as opposed to the preaxial expression seen here. 相似文献
20.
A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36 总被引:15,自引:0,他引:15
Henk C. Heus Anne Hing Marijke J. van Baren Marijke Joosse Guido J. Breedveld Jen C. Wang Andrea Burgess Helen Donnis-Keller Cathleen Berglund Julia Zguricas Stephen W. Scherer Johanna M. Rommens Ben A. Oostra Peter Heutink 《Genomics》1999,57(3):342-351