3,426 results match your criteria Supernumerary Digit


Oral manifestations of ellis-van creveld syndrome. A rare case report.

J Clin Exp Dent 2019 Mar 1;11(3):e290-e295. Epub 2019 Mar 1.

PhD, MD, DDS. Head of Oral and Maxillofacial Surgery Section of the La Paz University Hospital. Co-Director of the Service of Maxillofacial Surgery and Dentistry of Hospital la Luz. Head of the Oral and Maxillofacial Surgery Service, Alcorcon Southern Hospital.

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases orofacial anomalies. We describe a clinical case of a 9 year old male patient diagnosed with EVC who visited our Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as dental agenesis, delayed eruption, hypoplasia of the enamel, dental dysmorphism, taurodontism and supernumerary teeth. EVC syndrome is a rare disease and requires a multidisciplinary approach. Read More

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http://dx.doi.org/10.4317/jced.55543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461737PMC

Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing.

Mol Genet Genomic Med 2019 Apr 16:e690. Epub 2019 Apr 16.

Department of hand surgery, The First Hospital of Jilin University, Changchun, Jilin, China.

Background: Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood by removing of extra digits with surgery. Genetically, polydactyly is caused by mutations of genes that involve in digit formation. Read More

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http://dx.doi.org/10.1002/mgg3.690DOI Listing

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Hum Genet 2019 Apr 13. Epub 2019 Apr 13.

Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.

Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can serve as a tool to elucidate genetic and signaling pathways that regulate limb development, specifically, the anterior-posterior specification of the limb. To date, only five genes have been identified for nonsyndromic PAP: FAM92A, GLI1, GLI3, IQCE and ZNF141. Read More

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http://dx.doi.org/10.1007/s00439-019-02000-0DOI Listing

Morphological abnormalities in natural populations of the common South American toad Rhinella arenarum inhabiting fluoride-rich environments.

Ecotoxicol Environ Saf 2019 Aug 6;177:32-38. Epub 2019 Apr 6.

Ecología, Departamento de Ciencias Naturales, Facultad de Ciencias Exactas, Físico-Químicas y Naturales, Universidad Nacional de Río Cuarto, Ruta Nacional N° 36-km 601, X5804BYA, Río Cuarto, Argentina.

Morphological abnormalities in amphibians may be attributed to contaminants, ultraviolet radiation and trematode parasites, or a synergistic effect between them. In the present study, morphological abnormalities in Rhinella arenarum adults from natural and artificial fluoride-rich environments were identified and evaluated. Three sites were sampled in central Argentina: Los Vallecitos stream (LF-LV), Los Cerros Negros stream (MF-CN), and Decantation ponds (HF-DP), with low (0. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01476513193037
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http://dx.doi.org/10.1016/j.ecoenv.2019.03.098DOI Listing
August 2019
2 Reads

An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report.

BMC Pediatr 2019 Apr 6;19(1):95. Epub 2019 Apr 6.

Division of Neonatology, Department of Pediatrics, University of Texas Medical Branch at Galveston, Galveston, Texas, USA.

Background: Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy.

Case Presentation: Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.

Conclusion: This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-019-1480-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451243PMC
April 2019
3 Reads

Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.

J Pediatr Orthop 2019 Apr 3. Epub 2019 Apr 3.

Department of Orthopaedic Surgery, Sapporo Medical University, School of Medicine, Sapporo, Japan.

Background: The phalanx bones in several cases of lateral polydactyly of foot revealed complicated alignment with radiographic findings revealing medial-protrusion and lateral deviation of the middle phalanx. We previously defined such cases as showing "mosaic-like alignment" and demonstrated favorable postoperative outcomes using our surgical procedure. The aim of this study was to evaluate the midterm and long-term postoperative outcomes in such cases. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001381DOI Listing
April 2019
5 Reads

A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations.

J Genet 2019 Mar;98(1)

Liaoning Centre for Prenatal Diagnosis, Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Shenyang 110004, People's Republic of China.

A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and next generation sequencing (NGS) were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN, meanwhile NGS also revealed a partial tetrasomy of 27. Read More

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March 2019
1 Read

Whole exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Clin Genet 2019 Apr 3. Epub 2019 Apr 3.

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

Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1 digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13547
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http://dx.doi.org/10.1111/cge.13547DOI Listing
April 2019
2 Reads
3.931 Impact Factor

Parenting stress in mothers of children with congenital hand or foot differences and its effect on the surgical decision-making for their children.

J Orthop Surg (Hong Kong) 2019 May-Aug;27(2):2309499019838900

1 Department of Orthopaedic Surgery, Seoul National University, College of Medicine, Seoul, Republic of Korea.

Background:: The main purposes of this study were to assess the levels of parenting stress in the mothers of children with congenital hand or foot differences and to evaluate the effects of this stress on the preferred roles of mothers in surgical decision-making for their children.

Methods:: This study included 89 mothers of children with polydactyly of the hand, polydactyly of the foot, a hypoplastic thumb, or macrodactyly. The parenting stress level was assessed using the Parenting Stress Index-Short Form (PSI-SF). Read More

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http://dx.doi.org/10.1177/2309499019838900DOI Listing

Evaluation of the stapedial tendon growth dynamic in human fetuses.

Surg Radiol Anat 2019 Apr 1. Epub 2019 Apr 1.

Department of Otorhinolaryngology, Faculty of Medicine, Mersin University, Mersin, Turkey.

Purpose: The main objective of the study was to investigate the morphometric properties of the stapedial tendon (ST) for pediatric otosurgeons and anatomists.

Methods: The present study was placed on 15 fetuses (8 females, 7 males) aged from 20 to 30 weeks of gestation (at mean, 24.27 ± 3. Read More

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http://dx.doi.org/10.1007/s00276-019-02237-4DOI Listing
April 2019
1 Read

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Am J Hum Genet 2019 Apr 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and subtle posterior fossa abnormalities) to a single locus in which a founder homozygous truncating variant in FAM149B1 was identified by exome sequencing. We subsequently identified a third Arab consanguineous multiplex family in which the phenotype of Joubert syndrome/oral-facial-digital syndrome (OFD VI) was found to co-segregate with the same founder variant in FAM149B1. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451727PMC
April 2019
11 Reads

Postaxial polydactyly of the hand in Japanese patients: Case series reports.

J Plast Reconstr Aesthet Surg 2019 Mar 2. Epub 2019 Mar 2.

Department of Plastic, Reconstructive, and Aesthetic Surgery, Chiba University Graduate School of Medicine, 1-8-1, inohana, Chuo-ku, Chiba-city, Chiba, Japan.

Purpose: The incidence of postaxial polydactyly of the hand is rare in Japan. This study aimed to compare the clinical presentation of postaxial polydactyly between a cohort of patients from Japan and those from other racial and ethnic backgrounds.

Methods: In this retrospective study, we included 30 patients who were treated at our hospital during a 25-year study period (1990-2015). Read More

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http://dx.doi.org/10.1016/j.bjps.2019.02.030DOI Listing

The concept of nail matrix onychodermis (onychomatricodermis) in the nail unit: Histology and elastin immunohistochemistry.

J Cutan Pathol 2019 Mar 20. Epub 2019 Mar 20.

Dermpath Diagnostics New York, Port Chester, NY, USA.

Backgrounds: We previously demonstrated the presence of onychodermis below nail matrix and nail bed. Because nail matrix is a producer of nail plate, we hypothesized that onychodermis below nail matrix could be the nail counterpart of follicular dermal papilla. In this study, we sought to further characterize histologic, histochemical and immunohistochemical features of nail matrix onychodermis. Read More

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http://dx.doi.org/10.1111/cup.13460DOI Listing

A novel compound heterozygous mutation in identified in a Japanese patient.

Hum Genome Var 2019 12;6:14. Epub 2019 Mar 12.

1Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.

Bardet-Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in . Read More

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http://dx.doi.org/10.1038/s41439-019-0045-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418288PMC
March 2019
1 Read

Wassel VI Duplications: A Report of 2 Cases, Soft-tissue Anatomy, and Reconstructive Approach.

Plast Reconstr Surg Glob Open 2018 Nov 5;6(11):e1996. Epub 2018 Nov 5.

Department of Surgery, Division of Plastic and Reconstructive Surgery, Keck School of Medicine of the University of Southern California, Los Angeles, Calif.

Preaxial polydactyly represents an embryologic failure of formation and differentiation that is most commonly classified according to the level of bony duplication. The soft-tissue anatomy and approach to reconstruction of a Wassel VI thumb, an uncommon variant in which complete duplication begins at the metacarpals has not been extensively discussed in the literature. Here, we present 2 patients with a Wassel VI duplication and a shared soft-tissue variant of anomalous insertion of the opponens pollicis muscle onto the radial hypoplastic digit. Read More

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http://dx.doi.org/10.1097/GOX.0000000000001996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414115PMC
November 2018

[Current situation of researches on a sensor organelle, primary cilium, to understand the pathogenesis of ciliopathy].

Nihon Yakurigaku Zasshi 2019;153(3):117-123

Department of Molecular Pharmacology, Tohoku University School of Medicine.

Primary cilium is a membrane-protruding immotile sensory organelle. It had been supposed that the cilium was a static organelle for long periods. However, recent studies have uncovered that the cilium is dynamically organized organelle in a cell cycle-dependent manner; it is formed during G/G phase and resorbed when the cells enter cell division cycle. Read More

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http://dx.doi.org/10.1254/fpj.153.117DOI Listing
January 2019

Characterization of polydactyly chondrocytes and their use in cartilage engineering.

Sci Rep 2019 Mar 12;9(1):4275. Epub 2019 Mar 12.

Tissue Engineering + Biofabrication, Institute for Biomechanics, Swiss Federal Institute of Technology Zürich (ETH Zürich), Otto-Stern-Weg 7, CH-8093, Zürich, Switzerland.

Treating cartilage injuries and degenerations represents an open surgical challenge. The recent advances in cell therapies have raised the need for a potent off-the-shelf cell source. Intra-articular injections of TGF-β transduced polydactyly chondrocytes have been proposed as a chronic osteoarthritis treatment but despite promising results, the use of gene therapy still raises safety concerns. Read More

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http://www.nature.com/articles/s41598-019-40575-w
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http://dx.doi.org/10.1038/s41598-019-40575-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414529PMC
March 2019
2 Reads

Maternal occupational exposure to chemicals in the textile factory during pregnancy is associated with a higher risk of polydactyly in the offspring.

J Matern Fetal Neonatal Med 2019 Mar 25:1-7. Epub 2019 Mar 25.

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

Background: The number of children with polydactyly seen in our clinic is increasing. In addition to genetic factors, an influence of environmental effects during pregnancy is becoming increasingly apparent; however, epidemiological data on these effects are lacking.

Methods: This hospital-based, case-control study enrolled 143 patients with polydactyly and 286 control patients with no genetic diseases, to evaluate the association between maternal exposure to a textile factory environment during pregnancy and the likelihood of giving birth to a child with polydactyly. Read More

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http://dx.doi.org/10.1080/14767058.2019.1593358DOI Listing
March 2019
2 Reads

Long-Term Clinical and Radiographic Follow-Up of Preaxial Polydactyly Reconstruction.

J Hand Surg Am 2019 Mar 7;44(3):244.e1-244.e6. Epub 2018 Jul 7.

Department of Orthopedic Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA.

Purpose: The purpose of the study was to determine the long-term results of preaxial polydactyly reconstruction through evaluating strength, range of motion, pain, arthritis, and functional outcomes.

Methods: Patients having preaxial polydactyly reconstruction 15 to 60 years ago completed the Disabilities of the Arm, Shoulder, and Hand (DASH) and the Patient-Reported Outcomes Measurement Information System (PROMIS) Upper Extremity (UE) Computer Adaptive Test (CAT). Aggregate scores were compared with those of the general population. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03635023173132
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http://dx.doi.org/10.1016/j.jhsa.2018.05.030DOI Listing
March 2019
6 Reads

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Mol Genet Genomic Med 2019 Mar 9:e614. Epub 2019 Mar 9.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Background: Meckel-Gruber syndrome (MKS) is a well-known rare disease that can be detected on prenatal ultrasound. Meckel-Gruber syndrome has very heterogeneous etiology; at least, 17 genes have been described in association with MKS. The characteristic findings in fetuses affected by MKS are encephalocele (usually occipital), postaxial polydactyly, and polycystic dysplastic kidneys. Read More

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http://dx.doi.org/10.1002/mgg3.614DOI Listing
March 2019
1 Read

Novel GLI3 mutations in Chinese patients with non-syndromic post-axial polydactyly.

Curr Mol Med 2019 Mar 7. Epub 2019 Mar 7.

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha. China.

Background: Polydactyly, characterized by supernumerary digits in the upper or lower extremities, is the most common congenital digital abnormalities. It derives from the defective patterning of anteroposterior axis of the developing limb, with various etiology and clinical heterogeneity. The patients with post-axial polydactyly type A (PAPA) have the typical symptom of a well-formed supernumerary digit outside the fifth digit. Read More

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http://dx.doi.org/10.2174/1566524019666190308110122DOI Listing

Female-restricted syndromic intellectual disability in a patient from Thailand.

Am J Med Genet A 2019 May 3;179(5):758-761. Epub 2019 Mar 3.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Female-restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss-of-function mutations in the USP9X gene inherited as X-linked dominance were identified as its etiology in females of different ethnic groups. Here, we report a 15-year-old Thai girl harboring a novel de novo heterozygous one-base pair deletion (c. Read More

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http://dx.doi.org/10.1002/ajmg.a.61106DOI Listing
May 2019
2 Reads

Erosive rheumatoid arthritis in a young patient with mirror hand.

BMJ Case Rep 2019 Feb 28;12(2). Epub 2019 Feb 28.

Rheumatology, Queen Alexandra Hospital, Portsmouth, UK.

Mirror hand is a congenital anomaly characterised by duplication of the ulnar ray, resulting in polydactyly and functional disability of the hand. It can cause arthralgias and weakness in intrinsic muscles of the hand. We present a young woman who had a surgically corrected mirror hand and subsequently developed aggressive rheumatoid arthritis, which increased her limitations to a significant degree. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22773
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http://dx.doi.org/10.1136/bcr-2018-227739DOI Listing
February 2019
5 Reads

Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.

Gene 2019 May 18;697:48-56. Epub 2019 Feb 18.

Department of Obstetrics, Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou 363000, Fujian Province, China. Electronic address:

Background: Autosomal recessive disorder is closely correlated with congenital fetal malformation. The mutation of WDR35 may lead to short rib-polydactyly syndrome (SRP), asphyxiating thoracic dystrophy (ATD, Jeune syndrome) and Ellis van Creveld syndrome. The purpose of this study is to investigate the role of WDR35 in fetal anomaly. Read More

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http://dx.doi.org/10.1016/j.gene.2019.02.034DOI Listing
May 2019
1 Read

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

Am J Med Genet A 2019 Apr 14;179(4):639-644. Epub 2019 Feb 14.

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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380205PMC
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 Dec;64(4):338-350

Pracownia Cytoszkieletu i Biologii Rzęsek, Instytut Biologii Doświadczalnej im. Marcelego Nenckiego, Polskiej Akademii Nauk, 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
10 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
7 Reads

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

Genesis 2019 Mar 23;57(3):e23281. Epub 2019 Jan 23.

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422732PMC
March 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
13 Reads

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

Clin Genet 2019 Apr 8;95(4):540-541. 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
April 2019
2 Reads
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
8 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 2019 Mar;110(2):194-210

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399517PMC

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

Cytotherapy 2019 Feb 27;21(2):148-161. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435420PMC
February 2019
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
12 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
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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
2 Reads

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

Foot Ankle Int 2019 Apr 20;40(4):414-421. 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
April 2019
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A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.

Ann Plast Surg 2019 May;82(5):570-573

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
May 2019
3 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
5 Reads

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
11 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;23(1):98-103

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
4 Reads