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Polydactyly

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661. BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance (Full text)

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci (BBS1-BBS6) have been mapped in the human genome. However, extended mutational analyses of BBS2 and BBS6, the first two BBS

2002 American Journal of Human Genetics PubMed abstract

662. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. (Full text)

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. It is heterogeneous with at least four gene loci (BBS1-4) having been mapped to date. We have studied 18 multiply affected families noting the presence of both major and minor manifestations. Using a fluorescently based PCR technique

1997 Journal of Medical Genetics PubMed abstract

663. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (Full text)

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical characterisation of a family with 22 affected members and the genetic mapping of the corresponding locus. Clinical, radiographic

1997 Journal of Medical Genetics PubMed abstract

664. A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. (Full text)

A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. We report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1), postaxial polydactyly of the fingers, and a de novo paracentric inversion on the long arm of chromosome 8 involving bands q13.1 and q24.11. Molecular analysis using FISH and polymorphic DNA markers detected an approximately 4 Mb, cytogenetically unidentified deletion occurring between two STSs (...) markers, AFMB331YA9 and D8S1200, around the region of the distal inversion breakpoint. Although the deletion is large, mental retardation was not present in the patient. This is the first report of a cryptic deletion in a TRPS1 patient, both ends of which were analysed at the molecular level. The data obtained are useful for defining the location of the putative mental retardation gene(s) in TRPS1 and Langer-Giedion syndrome (TRPS2), as well as a locus for postaxial polydactyly.

1997 Journal of Medical Genetics PubMed abstract

665. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome (Full text)

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome.The phenotypes of affected siblings in 11 Scandinavian families with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation, were compared [corrected]. Individuals without retinal dystrophy were excluded.Intrafamilial variation (...) of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical

1997 The British journal of ophthalmology PubMed abstract

666. Genetic heterogeneity of Meckel syndrome. (Full text)

Genetic heterogeneity of Meckel syndrome. Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we report the exclusion of chromosome 17q21

1997 Journal of Medical Genetics PubMed abstract

667. Phenotype and Etiology of Pallister-Hall Syndrome

studies of normal mutant proteins. Condition or disease Malformations Multiple Abnormalies Polydactyly Detailed Description: We aim to use the power of modern molecular genetics and clinical research to delineate the range of severity, natural history, molecular etiology, and pathophysiology of a number of congenital anomaly syndromes. The goal of the research is to develop a knowledge base that allows proper clinical and molecular diagnosis of patients with rare congenital anomaly disorders. Our (...) Institute (NHGRI) ClinicalTrials.gov Identifier: Other Study ID Numbers: 940193 94-HG-0193 First Posted: November 4, 1999 Last Update Posted: April 4, 2019 Last Verified: January 7, 2016 Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ): Abnormalities, Multiple Hypothalamic Hamartoma Polysyndactyly Autosomal Dominant Mutation Gelastic Gelastic Seizure Hypothalamic Malformations Polydactyly Pallister-Hall Syndrome Additional

1999 Clinical Trials

668. Clinical and Molecular Investigations Into Ciliopathies

and polydactyly. The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments. Condition or disease Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis Caroli's Disease Polycystic Kidney Disease Joubert Syndrome Cerebro-Oculo-Renal Syndromes COACH Syndrome Senior-Loken Syndrome Dekaban-Arima Syndrome Cogan Oculomotor Apraxia Nephronophthisis Bardet-Biedl Syndrome Alstrom Syndrome Oral (...) -Facial-Digital Syndrome Ciliopathy Detailed Description: Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping features. Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. Human ciliopathies characterized

2003 Clinical Trials

669. Regulation of number and size of digits by posterior Hox genes: A dose-dependent mechanism with potential evolutionary implications (Full text)

of polydactyly. We propose that in the distal appendage of polydactylous short-digited ancestral tetrapods, such as Acanthostega, the HoxA complex was predominantly active. Subsequent recruitment of the HoxD complex contributed to both reductions in digit number and increase in digit length. Thus, transition through a polydactylous limb before reaching and stabilizing the pentadactyl pattern may have relied, at least in part, on asynchronous and independent changes in the regulation of HoxA and HoxD gene

1997 Proceedings of the National Academy of Sciences of the United States of America PubMed abstract

670. Hydrocolpos with peritonitis in the newborn. (Full text)

Hydrocolpos with peritonitis in the newborn. Two cases of hydrocolpos are described presenting soon after birth. One infant who died on the first day had an intrauterine peritonitis caused by compression of the caecum on the pelvic brim. The other surviving infant developed a caecal perforation secondary to Hirschsprung's disease. Neither infant had rectal atresia, which is the commonest cause of intestinal obstruction in these infants. The association of hydrocolpos with polydactyly in one

1980 Journal of Clinical Pathology PubMed abstract

671. A gene for Meckel syndrome maps to chromosome 11q13. (Full text)

A gene for Meckel syndrome maps to chromosome 11q13. Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern

1998 American Journal of Human Genetics PubMed abstract

672. Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies (Full text)

effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal (...) spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2)] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

2003 Korean Journal of Radiology PubMed abstract

673. Contribution of Apoptosis and Apoptosis-Related Proteins to the Malformation of the Primitive Intrahepatic Biliary System in Meckel Syndrome (Full text)

remodeling of the primitive intrahepatic biliary system. Meckel syndrome is an autosomal recessive inherited disease characterized by occipital encephalocele, postaxial polydactyly, diffuse cystic renal dysplasia, and malformation of the ductal plate of the liver. We studied 52 fetuses with Meckel syndrome from five German centers (Berlin, Freiburg, Heidelberg, Mainz, and Marburg). Analysis of apoptosis and cell proliferation (Ki-67) was performed by terminal deoxynucleotide transferase-mediated dUTP

2000 The American journal of pathology PubMed abstract

674. Multiple malformations in a newborn goat. (Full text)

0008-5286 IM Abnormalities, Multiple genetics pathology veterinary Animals Animals, Newborn Goat Diseases genetics pathology Goats abnormalities Male Polydactyly genetics veterinary 2000 7 25 11 0 2000 9 9 11 1 2000 7 25 11 0 ppublish 10907582 PMC1476183 Am J Med Genet. 1983 Apr;14(4):607-15 6846395 Arch Ophthalmol. 1982 Feb;100(2):285-8 7065946 J Hered. 1981 May-Jun;72(3):205-8 7276527 Clin Genet. 1986 Nov;30(5):406-8 3802559 Clin Pediatr (Phila). 1987 Mar;26(3):142-8 3816011 Vet Clin North Am

2000 The Canadian Veterinary Journal PubMed abstract

675. Sonic hedgehog: restricted expression and limb dysmorphologies (Full text)

of the limb bud in a region defined as the zone of polarizing activity (ZPA). Analysis of mouse mutants which have polydactyly (extra toes) shows that asymmetric expression of Shh is lost due to the appearance of an ectopic domain of expression in the anterior limb margin. One such polydactylous mouse mutant, sasquatch (Ssq), maps to the corresponding chromosomal region of the human condition pre-axial polydactyly (PPD) and thus represents a model for this condition. The mutation responsible for Ssq (...) is located 1 Mb away from the Shh gene; however, the mutation disrupts a long-range cis-acting regulator of Shh expression. By inference, human pre-axial polydactyly results from a similar disruption of Shh expression. Other human congenital abnormalities also map near the pre-axial polydactyly locus, suggesting a major chromosomal region for limb dysmorphologies. The distinct phenotypes range from loss of all bones of the hands and feet to syndactyly of the soft tissue and fusion of the digits. We

2003 Journal of anatomy PubMed abstract

676. De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. (Full text)

De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duodenal

1982 Journal of Medical Genetics PubMed abstract

677. A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25). (Full text)

A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25). A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests

1982 Journal of Medical Genetics PubMed abstract

678. Parental consanguinity and the Majewski syndrome. (Full text)

Parental consanguinity and the Majewski syndrome. We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further support to this hypothesis, as the infant was born

1982 Journal of Medical Genetics PubMed abstract

679. Dilemmas in counselling: the EEC syndrome. (Full text)

Dilemmas in counselling: the EEC syndrome. A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed in this variable autosomal dominant condition.

1990 Journal of Medical Genetics PubMed abstract

680. Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. (Full text)

and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin.

1991 Journal of Medical Genetics PubMed abstract

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