Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Polydactyly”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 811 records · Page 45Linked to original sources
PubMed2006

Thurston syndrome: report of a new case.

Thurston syndrome (oro-facial-digital syndrome type V) is an autosomal recessive condition characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations. According to earlier reports, the syndrome is predominantly seen in subjects of Indian descent. We report a cast of Thurston syndrome in a 13-year-old south Indian boy who presented with oral features, incomplete median cleft of upper lip, and polydactyly of both hands and left foot. A precise clinical differentiation must be made since considerable overlap of the features of the various other forms could give rise to difficulties in diagnosing the condition.

Adolescent↗
PubMed2005

Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh.

The role of the aristaless-related homeobox gene Alx4 in antero-posterior (AP-) patterning of the developing vertebrate limb has remained somewhat elusive. Polydactyly of Alx4 mutant mice is known to be accompanied by ectopic anterior expression of genes like Shh, Fgf4 and 5'Hoxd. We reported previously that polydactyly in Alx4 mutant mice requires SHH signaling, but we now show that in early Alx4-/- limb buds the anterior ectopic expression of Fgf4 and Hoxd13, and therefore disruption of AP-patterning, occurs independently of SHH signaling. To better understand how Alx4 functions in the pathways that regulate AP-patterning, we also studied genomic regulatory sequences that are capable of directing expression of a reporter gene in a pattern corresponding to endogenous Alx4 expression in anterior limb bud mesenchyme. We observed, as expected for authentic Alx4 expression, expansion of reporter construct expression in a Shh-/- background. Total lack of reporter expression in a Gli3-/- background confirms the existence of Gli3-dependent and -independent Alx4 expression in the limb bud. Apparently, these two modules of Alx4 expression are linked to dissimilar functions.

Animals↗
PubMed1982

Apert's syndrome--a report of five cases.

This report presents five cases of Apert's syndrome with features of acrocephaly, characteristic face and complete syndactyly of the hand and foot with bony fusion. Three cases out of five showed preaxial polydactylies of the foot, considered to be one of the characteristic features of Carpenter's syndrome. In the remaining two cases, the first digital ray of the foot was broad and deformed. In addition one case had a postaxial polydactyly of the hand. Three cases showed severe deformity of the shoulder; two had dysplasia and one had synchondrosis of the glenohumeral joint. On the basis of our findings in this, we feel that there is much phenotypic overlap between Apert's and Carpenter's syndrome. A polydactylous presentation of the hand and foot can be found in not a few cases of Apert's syndrome and it is not always an exclusive feature of Carpenter's syndrome.

Acrocephalosyndactylia↗
PubMed1977

Congenital triangular bones in the hand.

From the literature we found reports of 105 patients whom we judged had a triangular deformity of one of the bones of the hand or foot. We found 49 patients of our own with 84 delta-shaped phalanges limited strictly to the hand. This represents an incidence of 3.5% of our congenital abnormalities of the upper extremity. The deformity is associated with many abnormalities: syndactyly, polydactyly, symphalangism, triphalangeal thumb, cleft hand, and hypoplastic hand are the most frequent Triangular deformity of the bone of the index finger usually is associated with Apert's syndrome. Triangular deformity of the proximal phalanx of the ring finger often is found with central polydactyly. Our average follow-up time on these 49 patients was 14 years, giving us a chance to establish some guidelines and general rules about the natural history and treatment of the delta bone.

Abnormalities, Multiple↗
PubMed1982

Congenital anomalies of the upper limb among the Chinese population in Hong Kong.

Three hundred twenty-six patients with 396 congenital upper limb anomalies are classified according to the system adopted by the International Federation of Societies for Surgery of the Hands. The relative incidence of each separate anomaly is listed and compared with that of other series. Two hundred cases are also analyzed with respect to the family history, pregnancy history, neonatal history, and associated anomalies and the results are discussed. Significant racial differences were found in the incidence of polydactyly, syndactyly, anomalies associated with syndromes, and transverse arrests. The incidence of polydactyly is higher in this series than in comparable western series.

Arm↗
PubMed2000

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals. The disease was mapped to chromosome 4p16 in nine Amish subpedigrees and single pedigrees from Mexico, Ecuador and Brazil. Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder with a similar but milder phenotype, has been mapped in a single pedigree to an area including the EvC critical region. We have identified a new gene (EVC), encoding a 992-amino-acid protein, that is mutated in individuals with EvC. We identified a splice-donor change in an Amish pedigree and six truncating mutations and a single amino acid deletion in seven pedigrees. The heterozygous carriers of these mutations did not manifest features of EvC. We found two heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who both have the heart defect characteristic of EvC and polydactyly, but not short stature. We suggest that EvC and Weyers acrodental dysostosis are allelic conditions.

Alternative Splicing↗
PubMed2000

Mutations in MKKS cause Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the 'responsible' genes have previously been identified. Some BBS cases (approximately 10%) remain unassigned to the five previously mapped loci. McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also inherited in an autosomal recessive manner. We ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa (RP), obesity and polydactyly. The probands were from families unsuitable for linkage because of family size. We found MKKS mutations in four typical BBS probands (Table 1). The first is a 13-year-old Hispanic girl with severe RP, PAP, mental retardation and obesity (BMI >40). She was a compound heterozygote for a missense (1042GA, G52D) and a nonsense (1679TA, Y264stop) mutation in exon 3. Cloning and sequencing of the separate alleles confirmed that the mutations were present in trans. A second BBS proband (from Newfoundland), born to consanguineous parents, was homozygous for two deletions (1316delC and 1324-1326delGTA) in exon 3, predicting a frameshift. An affected brother was also homozygous for the deletions, whereas an unaffected sibling had two normal copies of MKKS. Both the proband and her affected brother had RP, PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at ages 33 and 30, respectively). A deceased sister (DNA unavailable) had similar phenotypic features (RP with blindness by age 13, BMI >45, abnormal glucose tolerance test and IQ=64, vaginal atresia and syndactyly of both feet). Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region confirmed homozygosity at 20p12 in both affected individuals.

Adolescent↗
PubMed2001

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects). MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum. We recently identified a novel gene that causes BBS2. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.

Bardet-Biedl Syndrome↗
PubMed2002

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital heart disease. What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6). There has been considerable interest in identifying the genes that underlie BBS, because some components of the phenotype are common. Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17). The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins. It has recently been suggested that three mutated alleles (two at one locus, and a third at a second locus) may be required for manifestation of BBS (triallelic inheritance). Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance.

Bardet-Biedl Syndrome↗
PubMed2000

Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome.

We present a 6-week-old black girl with Conradi-Hunerman-Happle syndrome (CHS). The mother had no past medical history of illness, and the pregnancy progressed normally to a spontaneous vaginal delivery at 36 weeks. There was no known significant family history. A diagnosis of chondrodysplasia punctata was made at birth from physical examination and X-ray findings. On physical examination at 6 weeks, a koala face, a saddle nose, and a right-sided cataract were noted (Fig. 1a,b). There was unilateral left-sided ichthyosis well demarcated at the midline, with whorled brown fine scale following Blashko's lines on the patient's right side. Orthopedic complications were bilateral but were more pronounced on the left side. There was bilateral shortening of the humerus, with polydactyly of the right hand, arachnodactyly of the left fingers, bilateral clubbing, and mild contractures of the feet. X-Rays showed multiple calcifications along the spine, proximal and distal femoral epiphysis, and proximal humeral epiphysis (Fig. 2). The patient was treated with emollients (aquaphor) twice daily with continuing improvement in ichthyosis. The clubbed feet were treated with splinting and the polydactyly was corrected by surgery. Ophthalmology was to follow the patient for her right-sided cataract. At the patient's 4-month follow-up, the ichthyosis showed a marked improvement with some residual hypo- pigmented atrophoderma noted. The distribution remained unchanged. Biopsies taken of ichthyotic lesions showed compact hyperkeratosis and follicular plugging. Vesicles within the stratum corneum contained amorphous material (Fig. 3a,b). The granular cell layer was thickened with retained oval nuclei. The epidermal and adnexal epithelium were disorganized. Increased apoptotic/dyskeratotic keratinocytes were seen within the epidermis, but were most evident within the follicular epithelium. Ultrastructural studies showed saccular dilations of the acellular space within the stratum corneum. These acellular spaces were filled with unprocessed lamellated pleated sheets and vesicle complexes and processed lamellae. Dyskeratotic cells were seen within the stratum spinosum. Red blood cell (RBC) plasmalogen levels and polyunsaturated fatty acids (PUFA), including decosahexaenoic acid (DHA), were within normal limits. Plasma very long chain fatty acids (VLCFA), including C26 : 0/C22 : 0 ratios, phytanic and pristanic acids, plasmalogen, and phytanic/pristanic ratios, trihydroxycholestanic acid (THCA) and dihydroxycholestanoic acid (DHCA) including their ratios, THCA/cholic acid and DHCA/chenodeoxycholic acid, and PUFAs including DHA were within normal limits. Urine organic acids and piecolic acid were within normal limits. Despite these normal values, there was an increase in cholest-8(9)-en-3beta-ol of 6.8 microg/mL (normal, 0.01-0.10 microg/mL) and an increase in 8-dehydrocholesterol (5.1 microg/mL) (normal, <0.10 microg/mL).

Abnormalities, Multiple↗
PubMed2002

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.

Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).

Abnormalities, Multiple↗
PubMedDate not supplied

Ellis-van Creveld Syndrome: a report of two cases.

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes EVC syndrome in two sisters of Indian origin, ages 8 and 6 years, the products of nonrelated, unaffected parents. The patients had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly, severely dystrophic nails, partially absent teeth, and short and bound-down upper lips with multiple frenulae. Other features noted in the girls were syndactyly and mild mitral regurgitation. All four of the classic features of EVC syndrome were present in patient 1 and three in patient 2. Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted.

Child↗
PubMed2004

Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week.

INTRODUCTION: The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. Its recurrence risk of 25 % demands an exact diagnosis. METHOD: Retrospective analysis of the sonographic characteristics in relation to the gestational age in eight cases with the pathologic diagnosis of MKS. RESULTS: The sonographic characteristics depend on the gestational age. The classic trias was solely seen in the case diagnosed before 14 (th) week of gestation. In the other seven cases, diagnosed between the 17 (th) and 20 (th) week of gestational age, only two of three characteristic signs of MKS could be visualised by US. Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion. CONCLUSION: The Meckel-Gruber syndrome can be confidently detected and diagnosed by sonography at the 11th to 14th gestational week. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by US alone. In these cases a meticulous autopsy is necessary to establish the diagnosis of MKS.

Abnormalities, Multiple↗
PubMed1981

[The Meckel syndrome (author's transl)].

The Meckel syndrome is caused by an autosomal recessive gene. The three main features are encephalocele, polycystic kidneys and polydactyly. At least two of these should be present to establish the diagnosis. Several minor symptoms are observed in various combinations. The possibility of prenatal diagnosis is explained by a case report: A neural tube defect was diagnosed by ultrasonography and AFP-assessment in amniotic fluid whereas unfortunately the presence of polycystic kidneys was not recognized sonographically. The methods of today are able to detect the polydactyly but failed in this case. One can suggest that the complete prenatal diagnosis of the Meckel syndrome is not essential for clinical management since the presence of one major symptom will lead to legal abortion. The search for Meckel syndrome is important in cases of delivery of a child with multiple malformations, indicating a genetic counseling for each subsequent pregnancy.

Abnormalities, Multiple↗
PubMedDate not supplied

[The treatment of congenital foot abnormalities].

With the exception of club foot, flat foot and claw foot, this paper gives a review of principal foot malformations at birth, proceeding from the available radiographical and clinical findings, and also from the facts found during surgery. In addition, there is suggested a classification of various deformities, and there are defined major guidelines and instructions for treatment. As far as the rather frequent polydactylies are concerned, the author distinguishes between a distal phalanx type, an interphalanx type, a proximal phalanx type, a metatarsal type and a tarsal type, depending on the "level", each, where distal/proximal web separation between the fingers stops. It is possible to include also rather particular forms, such as the rudimentary type and the so-called multiplications in this classification. The major indications for the surgical treatment of polydactylies are problems in finding adequate shoes, and also the aesthetic appearance. The principal concern of surgical treatment is to remove additional toes. When there is in parallel a syndactyly or a congenital hallux varus, this may require great skill in the applied surgical technique. Various approaches of surgical treatment are demonstrated by a few examples. Feet oligodactylies are primarily encountered with fibula dysplasia or aplasia, or in cleft feet. In very severe cases it is possible to find just one toe. The actual deformities alone rarely require surgical treatment, but they often "hint at" further malformations in the reach of the root of the foot (synostosis) and of the lower limb. Cleft feet are also frequently impaired in form and function, with these deformities including less severe hypoplasia of a middle toe, e. g. with a somewhat deeper web separation, toe aplasia, metatarsus hypoplasia and aplasia, synostosis, and transversal bones, and even monodactylies with only ray V existing. Additional toes in the cleft foot is one of the rare exceptions. However, the combination of cleft feet and cleft hands is rather frequently encountered. Many cleft feet are nevertheless highly efficient, even without any surgical treatment. That is why there are only indications for a surgical treatment when there are severe foot deformities or most inconvenient misalignments of peripheral toes. Some of the "lobster like" feet are so wide that it is just not possible to wear normal shoes. In this case it is recommended to have surgical correction and to close the cleft. Feet of congenital giant growth are extremely rare, but they raise most complex problems as to adequate treatment. In many cases, an amputation of the additional parts cannot be avoided.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗
PubMed2006

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly. Occipital encephalocele and/or polydactyly have occasionally been reported in some patients with JS, and these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS). MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. Since there is obvious phenotypic overlap between JS and MKS, we hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of JS. After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3.

Abnormalities, Multiple↗
PubMed1996

Congenital anomalies of the hand. The Asian perspective.

To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.

Animals↗
PubMedDate not supplied

Orthopaedic manifestations of Bardet-Biedl syndrome.

Bardet-Biedl syndrome is an autosomal recessive disorder poorly characterized in the orthopaedic literature. Classic manifestations of the syndrome include pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mild mental retardation. Previous reports have implied that orthopaedic findings are due to an epiphyseal dysgenesis inherent to the syndrome. The purpose of this study was to evaluate the orthopaedic manifestations of 27 patients with this syndrome. Detailed medical histories and physical examinations as well as pedigree analyses and radiographic bone surveys were performed. Orthopaedic findings included the following: 17 patients had postaxial polydactyly, 4 patients had scoliosis, 2 patients had tibia valga, 2 patients had tibia vara, and 1 patient had Legg-Calve-Perthes. The bone survey did not reveal any additional radiographic abnormalities. Based on these results, Bardet-Biedl syndrome patients do not have epiphyseal dysgenesis; their epiphyseal manifestations are probably the result of their obesity.

Adolescent↗