3,398 results match your criteria Supernumerary Digit


Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Am J Med Genet A 2019 Feb 14. Epub 2019 Feb 14.

Department of Genetics, Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS. Read More

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http://dx.doi.org/10.1002/ajmg.a.61050DOI Listing
February 2019

A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis.

Congenit Anom (Kyoto) 2019 Feb 15. Epub 2019 Feb 15.

MAGI Euregio, Via Maso della Pieve, Bolzano, Italy.

Here we report a case of posthumous genetic testing on an aborted fetus. Voluntary termination of pregnancy was chosen after prenatal ultrasound examination showed polydactyly and renal cysts. This article is protected by copyright. Read More

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http://dx.doi.org/10.1111/cga.12328DOI Listing
February 2019

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome.

Front Genet 2019 30;10:21. Epub 2019 Jan 30.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.

Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septal defect) mutated in . Read More

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http://dx.doi.org/10.3389/fgene.2019.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363664PMC
January 2019

Clinical Findings and Treatments of a Radially Deviated Type of Thumb Polydactyly.

J Hand Surg Asian Pac Vol 2019 Mar;24(1):17-23

1 Department of Orthopedic Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

Background: Patients with some thumb polydactyly subtypes are regarded as having a high risk of secondary deformities or poor treatment outcomes. Radially deviated type is one of these subtypes, but its characteristics and definitive treatment outcomes remain unclear. This study aimed to evaluate the pre- and intraoperative findings and surgical outcomes of this subtype. Read More

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http://dx.doi.org/10.1142/S2424835519500048DOI Listing

Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.

Am J Case Rep 2019 Feb 10;20:175-178. Epub 2019 Feb 10.

Adult and Development Age Human Pathology, Gaetano Barresi Unit of Otorhinolaryngology, University of Messina, Messina, Sicily, Italy.

BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by congenital hypothyroidism, facial dysmorphism, postaxial polydactyly, and mental retardation. The SBBYS variant of Ohdo syndrome is extremely rare with only 19 cases previously reported in the literature. A case is presented of chronic otitis media associated with cholesteatoma in a six-year-old boy with the SBBYS variant of Ohdo syndrome. Read More

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http://dx.doi.org/10.12659/AJCR.913893DOI Listing
February 2019
2 Reads

Variant metatarsal morphology causing metatarsal deformation in postaxial polydactyly.

ANZ J Surg 2019 Jan 30. Epub 2019 Jan 30.

Department of Orthopaedic Surgery, Gold Coast University Hospital, Gold Coast, Queensland, Australia.

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http://dx.doi.org/10.1111/ans.14987DOI Listing
January 2019

[Ciliopaties - diseases caused by abnormal cilia functioning].

Postepy Biochem 2018 12;64(4):338-350

Pracownia Białek Wiążących Wapń, Instytut Biologii Doświadczalnej im. M. Nenckiego PAN, Warszawa.

Ciliopathies are a group of genetic diseases caused by defects in the function of cilia, that are cellular processes composed of a microtubule-based core. Ciliopathies present with pathological changes in one or many organs at the same time. Symptoms of ciliopathies depend on the type of damaged tissues and organs. Read More

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http://dx.doi.org/10.18388/pb.2018_148DOI Listing
December 2018
4 Reads

Polydactyly MAS Classification.

Plast Reconstr Surg Glob Open 2018 Dec 17;6(12):e2022. Epub 2018 Dec 17.

Department of Plastic Surgery, King Saud bin Abdulaziz University for Health Sciences, KAMC, Jeddah, Saudi Arabia.

Background: Polydactyly is considered to be one of the common congenital hand anomalies. Classification of congenital hand anomalies by Swanson groups similar forms of deficits affected by specific embryological failures. Each type of polydactyly has its separate classification. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326608PMC
December 2018
6 Reads

Using CRISPR/Cas9 engineering to generate a mouse with a conditional knockout allele for the promyelocytic leukemia zinc finger transcription factor.

Genesis 2019 Jan 9:e23281. Epub 2019 Jan 9.

Department of Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas.

The promyelocytic leukemia zinc finger (PLZF) transcription factor mediates a wide-range of biological processes. Accordingly, perturbation of PLZF function results in a myriad of physiologic defects, the most conspicuous of which is abnormal skeletal patterning. Although whole body knockout of Plzf in the mouse (Plzf ) has significantly expanded our understanding of Plzf function in vivo, a conditional knockout mouse model that enables tissue or cell-type specific ablation of Plzf has not been developed. Read More

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http://dx.doi.org/10.1002/dvg.23281DOI Listing
January 2019
2 Reads

Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.

BMC Med Genomics 2019 Jan 9;12(1). Epub 2019 Jan 9.

Laboratory of Human Genetics, Department of Health Sciences, Università del Piemonte Orientale, Via Solaroli 17, 28100, Novara, Italy.

Background: Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulatory regions, although microrearrangements are confined to either the downstream or upstream enhancers in many patients. Mutations in the heterozygous state have been identified in up to 60-80% of Leri-Weill Dyschondrosteosis (LWD; MIM #127300) and approximately 4-5% of Idiopathic Short Stature (ISS; MIM#300582) patients. Read More

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http://dx.doi.org/10.1186/s12920-018-0445-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327496PMC
January 2019
7 Reads

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.

Clin Genet 2019 Jan 8. Epub 2019 Jan 8.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/cge.13495DOI Listing
January 2019
1 Read
3.931 Impact Factor

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Clin Genet 2019 Mar;95(3):384-397

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Read More

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http://dx.doi.org/10.1111/cge.13500DOI Listing
March 2019
3 Reads

Large preaxial polydactyly with intraepidermal bulla: an unusual form of polydactyly.

BMJ Case Rep 2019 Jan 3;12(1). Epub 2019 Jan 3.

Department of Neonatology, KK Women's and Children's Hospital, Singapore.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22818
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http://dx.doi.org/10.1136/bcr-2018-228183DOI Listing
January 2019
2 Reads

Two proximally-close priority candidate genes for diplopodia-1, an autosomal inherited craniofacial-limb syndrome in the chicken: MRE11 and GPR83.

J Hered 2018 Dec 31. Epub 2018 Dec 31.

Department of Animal Science, University of California, Davis, CA.

Next-generation sequencing (NGS) and expression technologies were utilized to investigate the genes and sequence elements in a 586 kb region of chicken chromosome 1 associated with the autosomal recessive diplopodia-1 (dp-1) mutation. This mutation shows a syndromic phenotype similar to known human developmental abnormalities (e.g. Read More

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http://dx.doi.org/10.1093/jhered/esy071DOI Listing
December 2018

Mesenchymal stromal cells from infants with simple polydactyly modulate immune responses more efficiently than adult mesenchymal stromal cells.

Cytotherapy 2018 Dec 27. Epub 2018 Dec 27.

Adult Stem Cell Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

Bone marrow-derived stromal cells or mesenchymal stromal cells (BMSCs or MSCs, as we will call them in this work) are multipotent progenitor cells that can differentiate into osteoblasts, adipocytes and chondrocytes. In addition, MSCs have been shown to modulate the function of a variety of immune cells. Donor age has been shown to affect the regenerative potential, differentiation, proliferation and anti-inflammatory potency of MSCs; however, the impact of donor age on their immunosuppressive activity is unknown. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14653249183069
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http://dx.doi.org/10.1016/j.jcyt.2018.11.008DOI Listing
December 2018
2 Reads

A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.

Growth Horm IGF Res 2019 02 18;44:17-19. Epub 2018 Dec 18.

Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain; Universidad Autónoma de Madrid, Department of Pediatrics, Madrid, Spain; IMDEA, Food Institute, CEIUAM+CSI, Crta. de Cantoblanco, 8, 28049 Cantoblanco, Madrid, Spain. Electronic address:

Objective: We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene.

Patients And Methods: A male with congenital hypopituitarism and polymalformation syndrome was clinically, biochemically and neuroradiologically characterized. Genetic analysis for congenital hypopituitarism was performed using a targeted NGS custom gene panel. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10966374183008
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http://dx.doi.org/10.1016/j.ghir.2018.12.002DOI Listing
February 2019
9 Reads

Ciliopathy: Alström Syndrome.

Adv Exp Med Biol 2018 ;1085:179-180

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA). The fundus shows pigmentary retinopathy with peau d'orange appearance and some fine white dots like drusen around the macula; the disc is pale, with attenuated retinal vessels (Fig. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_35
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http://dx.doi.org/10.1007/978-3-319-95046-4_35DOI Listing
January 2018
10 Reads

Ciliopathy: Bardet-Biedl Syndrome.

Adv Exp Med Biol 2018 ;1085:171-174

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present. Read More

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http://dx.doi.org/10.1007/978-3-319-95046-4_33DOI Listing
January 2018
1 Read

de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.

J Med Genet 2018 Dec 20. Epub 2018 Dec 20.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Background: In this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. We then explored the underlying molecular mechanism.

Methods: Trio-based, whole-exome sequencing was performed to identify disease-causing gene mutation. Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105487DOI Listing
December 2018

Foot Function in Patients With Surgically Treated Preaxial Polydactyly of the Foot Compared With Age- and Sex-Matched Healthy Controls.

Foot Ankle Int 2018 Dec 20:1071100718816733. Epub 2018 Dec 20.

3 Department of Rehabilitation Medicine, Academic Medical Center, University of Amsterdam, Amsterdam Movement Sciences, Amsterdam, the Netherlands.

Background:: Treatment of preaxial foot polydactyly, a duplication of the first ray, consists of excision of an extra ray, aiming to improve shoe fitting and aesthetic appearance, while maintaining foot function. Currently, the effect of excision on foot function and foot-related patient experiences is unclear.

Methods:: A cross-sectional comparison between 37 children treated for preaxial foot polydactyly and 37 age- and sex-matched healthy controls was performed. Read More

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http://dx.doi.org/10.1177/1071100718816733DOI Listing
December 2018

A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.

Ann Plast Surg 2018 Dec 18. Epub 2018 Dec 18.

From the Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.

Background: GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001685DOI Listing
December 2018
2 Reads

Wassel type III polydactyly.

Authors:
Meltem Özdemir

Radiol Case Rep 2019 Feb 29;14(2):287-290. Epub 2018 Nov 29.

Department of Radiology, Dışkapı Yıldırım Beyazıt Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Preaxial polydactyly, which refers to the duplication of the first digital ray, sporadically occurs in 8 per 100,000 births among African and Caucasian populations. It develops as the result of the failure of the hand plate differentiation in the radial-ulnar axis, and is mostly unilateral. Preaxial polydactyly is only a cosmetic disturbance rather than being a functional deficiency in most cases, and in general, good outcomes which are maintained over time are obtained from surgical treatment. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288711PMC
February 2019

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Pediatr Endocrinol Rev 2018 Dec;16(2):275-283

Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail:

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. Read More

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http://pediatricendoreviews.com
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http://dx.doi.org/10.17458/per.vol16.2018.ellisvananddandywalerDOI Listing
December 2018
6 Reads

Thumb duplication: molecular analysis of different clinical types.

Eur J Orthop Surg Traumatol 2019 Feb 29;29(2):421-426. Epub 2018 Nov 29.

Department of Orthopaedic Surgery, Medical School, University of Thessaly, Larissa, Greece.

Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations.

Materials And Methods: In a series of patients operated for polydactyly, DNA was extracted from blood samples collected preoperatively. Among these, the samples of two patients with thumb duplication (Wassel types III and IV) were initially selected for molecular analysis. Read More

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http://link.springer.com/10.1007/s00590-018-2343-3
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http://dx.doi.org/10.1007/s00590-018-2343-3DOI Listing
February 2019
2 Reads

A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.

J Neurosurg Pediatr 2018 Oct 1:1-6. Epub 2018 Oct 1.

Departments of1Neurosurgery and.

Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. In this clinical report, the authors describe two brothers with a different familial syndrome. Read More

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http://dx.doi.org/10.3171/2018.7.PEDS18292DOI Listing
October 2018
3 Reads

A Case of Single Atrium, Mitral Valve Prolapse Spontaneously - Closed Inlet VSD with Polydactyly.

Mymensingh Med J 2018 Oct;27(4):894-897

Dr Ranjan Kumar Majumder, Department of Cardiology, Kumudini Women's Medical College, Mirzapur, Tangail, Bangladesh.

Single Atrium is a complex cardiac anomaly and generally a component of certain congenital syndromes. It is extremely rare for SA to be observed as an isolated defect. We report here a 14 year-old male patient with SA with MVP with spontaneously-closed inlet-VSD with polydactyly. Read More

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October 2018
1 Read

Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.

Authors:
Femia Hayek

J Med Case Rep 2018 Nov 29;12(1):354. Epub 2018 Nov 29.

Department of Pediatrics, Rafic Hariri University Hospital, Bir-Hassan, Jinah, Beirut, Lebanon.

Background: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus.

Case Presentation: In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister-Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones.

Conclusions: This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Read More

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-018-1868-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262955PMC
November 2018
13 Reads

Chondroectodermal Syndrome.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

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January 2019
2 Reads

[Active and passive maternal smoking during pregnancy and risk of having a child with polydactyly: a case-control study].

Zhonghua Liu Xing Bing Xue Za Zhi 2018 Nov;39(11):1482-1485

Department of Orthopedics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

The number of children with polydactyly is increasing. In addition to genetic factors, an influence of maternal behavior or environmental effects during pregnancy is becoming increasingly apparent. However, epidemiological data on these effects are lacking. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0254-6450.2018.11.012DOI Listing
November 2018

Transposition of Duplicated Thumb for Reconstruction of Asymmetric Radial Polydactyly.

Ann Plast Surg 2019 Jan;82(1S Suppl 1):S13-S17

From the Division of Plastic and Reconstructive Surgery, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan, Republic of China.

Background: In this study, we present the long-term functional and aesthetic outcomes in patients with complicated asymmetric radial polydactyly treated with this surgical technique involving the transposition of a duplicated thumb.

Methods: We evaluated 6 thumbs in 6 patients who underwent radial polydactyly reconstruction using the transposition of duplicated thumb procedure between 2001 and 2017. The procedure was used when one of the thumbs was not obviously dominant over the other, with one having a better proximal portion and the other having a better distal portion. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001722DOI Listing
January 2019
11 Reads

Clinical Genetics of Polydactyly: An Updated Review.

Front Genet 2018 6;9:447. Epub 2018 Nov 6.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Polydactyly, also known as or is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types, i.e. Read More

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http://dx.doi.org/10.3389/fgene.2018.00447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232527PMC
November 2018
9 Reads

A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma.

Hum Genome Var 2018 12;5:31. Epub 2018 Nov 12.

1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610 Singapore.

Pallister-Hall syndrome is a rare autosomal dominant condition that is associated with polydactyly and hypothalamic hamartoma and is caused predominantly by frameshift or nonsense pathogenic variants in the gene. The majority of cases are identified during childhood; however, rare reports of diagnoses during adulthood exist. Here, we describe the identification of a novel nonsense pathogenic variant in an adult male following the incidental detection of a hypothalamic hamartoma. Read More

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http://dx.doi.org/10.1038/s41439-018-0031-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232149PMC
November 2018
1 Read

IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.

Int J Mol Sci 2018 Nov 16;19(11). Epub 2018 Nov 16.

Department of Biochemistry and Molecular Biology, Molecular Medicine and Cancer Research Center, Chongqing Medical University, Chongqing 400016, China.

The assembly and maintenance of cilia depend on intraflagellar transport (IFT) proteins, which play an important role in development and homeostasis. IFT80 is a newly defined IFT protein and partial mutation of IFT80 in humans causes diseases such as Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III, both characterized by abnormal skeletal development. However, the role and mechanism of IFT80 in the invasion of gastric cancer is unknown. Read More

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http://dx.doi.org/10.3390/ijms19113616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6274718PMC
November 2018
1 Read

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.

Cytogenet Genome Res 2018 17;156(3):127-133. Epub 2018 Nov 17.

Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype of KS to be defined as developmental delay/intellectual disability, generalized hypotonia, neuropsychiatric anomalies, and a distinctive facial appearance. Read More

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http://dx.doi.org/10.1159/000494532DOI Listing
February 2019
7 Reads

Accurate Osteotomy for the Treatment of a Rare Case of Postaxial Polydactyly of the Foot That Originated From a Deformed Calcaneus Using a 3D-Printed Guiding Plate.

J Foot Ankle Surg 2019 Jan 15;58(1):171-175. Epub 2018 Nov 15.

Chief, Foot and Ankle Surgery, Department of Orthopaedic Surgery, Second Hospital of Jilin University, Changchun, China. Electronic address:

Polydactyly is a common congenital deformity of the foot that can be categorized as preaxial, central, or postaxial. Current treatments involve resecting the supernumerary toe(s) and repairing the normal toe(s) and soft tissue. Here, we present the first published report describing a very rare case of polydactyly of the foot, in which the supernumerary toe originated from a deformed calcaneus, which formed an abnormal bony bump. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10672516183027
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http://dx.doi.org/10.1053/j.jfas.2018.07.003DOI Listing
January 2019
5 Reads

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Mol Genet Genomic Med 2018 Nov 16. Epub 2018 Nov 16.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

Background: The cohesin complex is a multi-subunit protein complex which regulates sister chromatid cohesion and separation during cellular division. In addition, this evolutionarily conserved protein complex plays an integral role in DNA replication, DNA repair, and the regulation of transcription. The core complex is composed of four subunits: RAD21, SMC1A, SMC3, and STAG1/2. Read More

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http://doi.wiley.com/10.1002/mgg3.501
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http://dx.doi.org/10.1002/mgg3.501DOI Listing
November 2018
6 Reads

Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice.

Hum Mol Genet 2018 Nov 15. Epub 2018 Nov 15.

Université Claude Bernard Lyon 1,CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, Lyon, France.

Acrocallosal syndrome (ACLS) is a rare genetic disorder characterized by agenesis or hypoplasia of corpus callosum (CC), polydactyly, craniofacial dysmorphism and severe intellectual deficiency. We previously identified KIF7, a key ciliary component of the Sonic hedgehog pathway, as being a causative gene for this syndrome, thus including ACLS in the group of ciliopathies. In both humans and mice, KIF7 depletion leads to abnormal GLI3 processing and over-activation of SHH target genes. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy392DOI Listing
November 2018
8 Reads

Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association.

J Hand Surg Asian Pac Vol 2018 Dec;23(4):605-606

1 Department of Hand Surgery & Peripheral Nerve Surgery, Royal North Shore Hospital, The Children's Hospital at Westmead, University of Sydney, St Leonards, Sydney, Australia.

Lower limb malformations in VACTERL patients are extremely rare and the most common anomalies are found in the tibial ray. We present the case of a 15 month old male with VACTERL and, additionally, a hypoplastic hallucal ray of the right foot in conjunction with a floating preaxial polydactyly. The great toe hypoplasia is similar to a grade 3b thumb hypoplasia with absence of the proximal two-thirds of the first metatarsal on the plain X-ray. Read More

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http://dx.doi.org/10.1142/S2424835518720402DOI Listing
December 2018
9 Reads

A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4.

J Hand Surg Asian Pac Vol 2018 Dec;23(4):566-570

1 Pediatric Plastic Surgery in Department of Pediatric Surgery, Dokkyo Medical University Saitama Medical Center, Saitama, Japan.

The objective of this study was to clarify the difference in thumb deformity between our case with ring chromosome 4 and thumb polydactyly, in which ulnar side was small and had no active motion, and other cases of ring chromosome 4, by analyzing previous reports. Our case had bilateral atypical thumb polydactyly, which was classified as type 4 on the right side and type 5 on the left side, according to the Japanese Society for Surgery of the Hand: Modified International Federation of Societies for Surgery of the Hand classification. Of the 39 cases in previous reports, 20 (51. Read More

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http://dx.doi.org/10.1142/S2424835518720311DOI Listing
December 2018
11 Reads

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Centre for Arab Genomic Studies, Dubai, United Arab Emirates.

Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunction with variable organ involvement. The genetic basis of JS is heterogeneous, with over 35 ciliary genes being implicated in its pathogenesis. However, some of these genes (such as PDE6D) have been associated to JS only in single families, seeking confirmation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.010DOI Listing
November 2018
2 Reads
1.486 Impact Factor

To Tie or Not to Tie: A Systematic Review of Postaxial Polydactyly and Outcomes of Suture Ligation Versus Surgical Excision.

Hand (N Y) 2018 Nov 12:1558944718810885. Epub 2018 Nov 12.

1 University of Florida Health, Gainesville, USA.

Background: Ulnar polydactyly is frequently encountered in the newborn nursery and is commonly treated with bedside suture ligation. However, growing concern about the complications associated with suture ligation has led some practitioners to advocate for primary surgical excision instead. Thus, we set out to compare outcomes of suture ligation and surgical excision by systematic appraisal of the literature. Read More

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http://dx.doi.org/10.1177/1558944718810885DOI Listing
November 2018
6 Reads

Spatial and Quantitative Detection of BMP Activity in Mouse Embryonic Limb Buds.

Methods Mol Biol 2019 ;1891:201-219

Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.

Modulation of bone morphogenetic protein (BMP) activity is essential to the progression of limb development in the mouse embryo. Genetic disruption of BMP signaling at various stages of limb development causes defects ranging from complete limb agenesis to oligodactyly, polydactyly, webbing, and chondrodysplasia. To probe the state of BMP signaling in early limb buds, we designed two sets of primers to measure both spatially and quantitatively the transcription of nine key genes indicative of canonical BMP activity. Read More

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http://link.springer.com/10.1007/978-1-4939-8904-1_15
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http://dx.doi.org/10.1007/978-1-4939-8904-1_15DOI Listing
January 2019
13 Reads

A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.

Front Physiol 2018 25;9:1484. Epub 2018 Oct 25.

Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, United States.

Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic disorder. Affected patients present a wide spectrum of symptoms including short stature, postaxial polydactyly, and dental abnormalities. We previously disrupted , one of the causative genes for EvC syndrome, in mice using a neural crest-specific, -mediated approach (i. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01484
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http://dx.doi.org/10.3389/fphys.2018.01484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210651PMC
October 2018
8 Reads

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

J Bone Miner Res 2019 Feb 5;34(2):375-386. Epub 2018 Nov 5.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type A (PAPA), we performed genomewide genotyping, linkage analysis, and exome and Sanger sequencing. Read More

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http://doi.wiley.com/10.1002/jbmr.3594
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http://dx.doi.org/10.1002/jbmr.3594DOI Listing
February 2019
18 Reads

Surgical treatment of polydactyly and syndactyly during the 4th century AD.

Acta Chir Belg 2019 Feb 2;119(1):64-65. Epub 2018 Nov 2.

b Department of History of Medicine, Faculty of Medicine , University of Crete , Heraklion , Greece.

Introduction: Polydactyly, or polydactylism, is a common congenital disorder of the limbs, consisting of any digit duplication beyond the normal five. The term syndactyly refers to fused digits. We herein present a thorough description of these diseases together with their surgical treatment, provided by Oribasius, a Byzantine physician of the 4th century. Read More

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https://www.tandfonline.com/doi/full/10.1080/00015458.2018.1
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http://dx.doi.org/10.1080/00015458.2018.1534392DOI Listing
February 2019
10 Reads

Radial polydactyly: putting together evolution, development and clinical anatomy.

J Hand Surg Eur Vol 2019 Jan 30;44(1):51-58. Epub 2018 Oct 30.

2 Department of Anatomy, Howard University College of Medicine, Washington, DC, USA.

Evolutionary developmental pathology, a new biological field, connects the study of evolution, development and human pathologies. In radial polydactyly, traditional studies have focused mainly on skeletal anomalies. This study examines anatomical and operative records of 54 consecutive cases of radial polydactyly to investigate whether there is a consistent spatial correlation between muscles, tendons and bones and whether this reflects a link between the mechanisms that generate these structures. Read More

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http://dx.doi.org/10.1177/1753193418808138DOI Listing
January 2019
1 Read

Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy.

Congenit Anom (Kyoto) 2018 Oct 29. Epub 2018 Oct 29.

Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangdong, China.

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http://doi.wiley.com/10.1111/cga.12317
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http://dx.doi.org/10.1111/cga.12317DOI Listing
October 2018
7 Reads

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.

Eur J Hum Genet 2019 Mar 29;27(3):384-388. Epub 2018 Oct 29.

CHU Bordeaux, Service de Génétique Médicale, F-33076, Bordeaux, France.

The organization of mammalian genomes into sub-megabase sized Topologically Associated Domains (TADs) has recently been revealed by techniques derived from Chromosome Conformation Capture (3 C), such as High Chromosome Contact map (Hi-C). Disruption of this organization by structural variations can lead to ectopic interactions between enhancers and promoters, and to alteration of genes expression patterns. This mechanism has already been described as the main pathophysiological mechanism in several syndromes with congenital malformations. Read More

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http://www.nature.com/articles/s41431-018-0290-4
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http://dx.doi.org/10.1038/s41431-018-0290-4DOI Listing
March 2019
8 Reads

Unraveling the transcriptional regulation of TWIST1 in limb development.

PLoS Genet 2018 10 29;14(10):e1007738. Epub 2018 Oct 29.

Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

The transcription factor TWIST1 plays a vital role in mesoderm development, particularly in limb and craniofacial formation. Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. However, the molecular basis of TWIST1 transcriptional regulation during development has yet to be elucidated. Read More

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http://dx.plos.org/10.1371/journal.pgen.1007738
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http://dx.doi.org/10.1371/journal.pgen.1007738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233932PMC
October 2018
9 Reads