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    Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
    Taiwan J Obstet Gynecol 2018 Feb;57(1):123-127
    Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
    Objective: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3).

    Case Report: A 29-year-old, primigravid woman was referred for genetic counseling at 15 weeks of gestation because of abnormal ultrasound findings of short limbs, a narrow chest and bilateral polydactyly of the hands and feet, consistent with a diagnosis of SRPS type III. Chorionic villus sampling was performed, and targeted next-generation sequencing (NGS) was applied to analyze a panel of 25 genes including CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, FGFR2, FGFR3, HOXD10, IFT122, IFT140, IFT172, IFT52, IFT80, KIAA0586, NEK1, PAPSS2, SLC26A2, SOX9, TCTEX1D2, TCTN3, TTC21B, WDR19, WDR34, WDR35 and WDR60. Read More

    Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
    Med Res Arch 2017 Sep 18;5(9). Epub 2017 Sep 18.
    Department of Pediatrics, University of Iowa; Iowa City, IA 52242, USA.
    Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, the cardinal features of BBS include obesity, cognitive impairment, renal anomalies, polydactyly, and hypogonadism. Read More

    INTU-related oral-facial-digital syndrome type VI: a confirmatory report.
    Clin Genet 2018 Feb 16. Epub 2018 Feb 16.
    Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
    Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Read More

    The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families.
    J Hand Surg Eur Vol 2018 Jan 1:1753193418758862. Epub 2018 Jan 1.
    Plastic and Hand Surgery Division, King Saud University, Riyadh, Saudi Arabia.
    Preaxial polydactyly and radial longitudinal deficiency are usually viewed as two different entities. We present nine families with different disorders in which both preaxial polydactyly and radial longitudinal deficiency were seen in the phenotype. This indicates that both entities may be caused by the same developmental error or insult. Read More

    Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.
    Sci Rep 2018 Feb 14;8(1):3019. Epub 2018 Feb 14.
    Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, Montevideo, CP11400, Uruguay.
    Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and mental retardation. CCDC28B is a BBS-associated protein that we have previously shown plays a role in cilia length regulation whereby its depletion results in shortened cilia both in cells and Danio rerio (zebrafish). At least part of that role is achieved by its interaction with the mTORC2 component SIN1, but the mechanistic details of this interaction and/or additional functions that CCDC28B might play in the context of cilia remain poorly understood. Read More

    Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.
    PLoS One 2018 14;13(2):e0192755. Epub 2018 Feb 14.
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, lowa, United States of America.
    Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. Read More

    Does timing of surgery influence the long-term results of foot polydactyly treatment?
    Foot Ankle Surg 2017 Apr 13. Epub 2017 Apr 13.
    Children's Hospital Zagreb, Vjekoslava Klaića 16, 10000 Zagreb, Croatia. Electronic address:
    Background: There is an evident lack of research on timing of polydactyly surgery and its effects on treatment results.

    Methods: Retrospective comparative study on foot polydactyly patients treated at our department from 1995 to 2009. Patients were divided into 2 groups, group A - under the age of 5 at surgery, and group B - 5 years and older. Read More

    A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
    Sci Rep 2018 Feb 1;8(1):2053. Epub 2018 Feb 1.
    Genetics Unit, Cell Biology and Genetics Research Centre, Molecular & Clinical Sciences Research Institute, St. George's University of London, London, UK.
    Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes. We identified a consanguineous family of Saudi origin with varying complex features including intellectual disability, speech delay, facial dysmorphism and polydactyly. Combining, microarray based comparative genomic hybridisation (CGH) to identify regions of homozygosity, with exome sequencing, led to the identification of homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A), all of which appear to be pathogenic as predicted by Proven, SIFT and PolyPhen2 and segregate perfectly with the disease phenotype. Read More

    Causes of Congenital Malformations.
    Birth Defects Res 2018 Jan;110(2):87-91
    Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.
    Background: Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ). Read More

    Polydactyly, postaxial, type B.
    Birth Defects Res 2018 Jan;110(2):134-141
    Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.
    Background: Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of the hand or foot at the level of the metacarpal-phalangeal joint or the metatarsal-phalangeal joint. The occurrence of this type of polydactyly varies among racial groups, by sex and sidedness. Read More

    Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a() deletion.
    NPJ Genom Med 2018 22;3. Epub 2018 Jan 22.
    1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA.
    Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in primary cilia function. We report a 1-year-old male child from Guyana with obesity, postaxial polydactyly on his right foot, hypotonia, ophthalmologic abnormalities, and developmental delay, which together indicated a clinical diagnosis of BBS. Read More

    Radial Polydactyly. What's New?.
    Curr Pediatr Rev 2018 Jan 23. Epub 2018 Jan 23.
    Sant Joan de Deu Chidlren`s Hospital, Pediatric Orthopaedic Surgery Department Barcelona. Spain.
    Thumb duplication, also called radial or preaxial polydactyly, is classified as an alteration of the radio-ulnar axis (anterior-posterior) in the formation and differentiation of the hand plate, according to the Oberg, Manske and Tonkin classification. Polydactyly is the most frequently observed congenital hand malformation. Radial polydactyly is reported as the most frequent type of hand polydactyly in Caucasians, and it is also relatively frequent in American and Asian patients. Read More

    Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
    Birth Defects Res 2018 Jan 23. Epub 2018 Jan 23.
    Department of Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital of Tongji University, Shanghai, China.
    Background: Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short-rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, polydactyly and multiple malformations. Read More

    Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.
    Orphanet J Rare Dis 2018 Jan 15;13(1). Epub 2018 Jan 15.
    Department of Dermatology, University of Turku, Turku, Finland.
    Background: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g. Read More

    A Novel Role forin a Lebanese Family with Congenital Cardiac Defects.
    Front Genet 2017 18;8:217. Epub 2017 Dec 18.
    Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
    Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 diedof unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s) causing these phenotypes using next generation sequencing (NGS) technology. Read More

    Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
    J Genet 2017 Dec;96(6):1005-1014
    Faculty of Biological Sciences, Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan.
    Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. Read More

    A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.
    CEN Case Rep 2018 Jan 9. Epub 2018 Jan 9.
    Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
    Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia. Read More

    An On-Top-Plasty Reconstruction for Complicated Radial Polydactyly.
    Hand (N Y) 2018 Jan 1:1558944717753205. Epub 2018 Jan 1.
    1 University of Michigan, Ann Arbor, USA.
    Background: The clinical presentation of radial polydactyly can vary greatly. Careful planning and appreciation of the anatomic subtleties provides alternative surgical options to improve patient outcomes.

    Methods: We present a case of a well-formed accessory web space thumb and a hypoplastic primary thumb. Read More

    Polydactyly of the Hand.
    J Am Acad Orthop Surg 2018 Feb;26(3):75-82
    From the Department of Orthopedic Surgery, Palo Alto Medical Foundation, Palo Alto, CA (Dr. Comer), the Department of Orthopaedic Surgery, Sentara Martha Jefferson Healthcare, Charlottesville, VA (Dr. Potter), and the Department of Orthopedic Surgery, Stanford University School of Medicine, Redwood, CA (Dr. Ladd).
    Polydactyly is one of the most common congenital hand deformities managed by orthopaedic surgeons. It is most often found in isolation; however, rarely, it may be associated with genetic syndromes. Polydactyly is classified as postaxial, preaxial, or central depending on the radioulnar location of the duplicated digits. Read More

    Haploinsufficiency ofandin the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.
    Mol Cytogenet 2017 28;10:47. Epub 2017 Dec 28.
    Department of Obstetrics and Gynaecology, University Hospital Olomouc, Olomouc, Czech Republic.
    Background: Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/retrognathia. The reports of the microdeletion 14q22q23 detected in the prenatal stages are limited and the range of clinical features reveals a quite high variability.

    Case Presentation: We report a detection of the microdeletion 14q22. Read More

    Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
    Cytogenet Genome Res 2017 4;153(2):56-65. Epub 2018 Jan 4.
    Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan.
    GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14. Read More

    Thenar Dysplasia in Radial Polydactyly Depends on the Level of Bifurcation.
    Plast Reconstr Surg 2018 01;141(1):85e-90e
    Kyoto, Japan From the Department of Plastic and Reconstructive Surgery, Graduate School of Medicine and Faculty of Medicine, Kyoto University.
    Background: Little is known about thenar dysplasia in radial polydactyly, other than that thenar hypoplasia occasionally occurs in radial polydactyly with triphalangism. In particular, the phenotype and level of duplication associated with thenar dysplasia remain unclear.

    Methods: The abductor pollicis brevis and flexor pollicis brevis muscles were visualized using three-dimensional ultrasound, and their horizontal geometry was assessed using a biaxial level classification system. Read More

    Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
    Am J Med Genet A 2018 Feb 22;176(2):438-442. Epub 2017 Dec 22.
    Center for Human Genetics, Bioscientia, Ingelheim, Germany.
    Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 encodes a protein thought to play a role in the primary cilium's intraflagellar transport machinery. Read More

    Genetic Overview of Syndactyly and Polydactyly.
    Plast Reconstr Surg Glob Open 2017 Nov 2;5(11):e1549. Epub 2017 Nov 2.
    Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Canada; Institute of Medical Science, University of Toronto, Toronto, Canada; Department of Plastic and Reconstructive Surgery, Hazrat Fatemeh Hospital, Burn Research Center, Iran University of Medical Sciences, Tehran, Iran; and Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.
    Syndactyly and polydactyly-respectively characterized by fused and supernumerary digits-are among the most common congenital limb malformations, with syndactyly presenting at an estimated incidence of 1 in 2,000-3,000 live births and polydactyly at a frequency of 1 in approximately 700-1,000 live births. Despite their relatively regular manifestation in the clinic, the etiologies of syndactyly and polydactyly remain poorly understood because of their phenotypic and genetic diversity. Further, even though concrete knowledge of genotypic links has been established for some variants of syndactyly and polydactyly, there appears to be no single comprehensive published summary of all syndromic and nonsyndromic syndactyly and polydactyly presentations, and there is decidedly no resource that maps all syndromic and nonsyndromic syndactylies and polydactylies to their genetic bases. Read More

    Characterization of polydactyly-derived chondrocyte sheets versus adult chondrocyte sheets for articular cartilage repair.
    Inflamm Regen 2017 1;37:22. Epub 2017 Nov 1.
    Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Kanagawa, Japan.
    Background: We previously conducted a first-in-human clinical study of articular cartilage repair using autologous chondrocyte sheets and confirmed the regeneration of hyaline-like cartilage in all eight patients. However, regenerative medicine with autologous chondrocyte sheets requires the harvesting of tissue from healthy regions, and the quality of this tissue varies between individuals. To overcome such limitations, allogeneic transplantation is a promising treatment method, particularly for articular cartilage repair. Read More

    A rare case of Meckel-Gruber syndrome.
    Rom J Morphol Embryol 2017 ;58(3):1023-1027
    Discipline of Psychology, Department of Neurosciences, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania;
    Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, occipital meningoencephalocele). Read More

    Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome.
    Taiwan J Obstet Gynecol 2017 Dec;56(6):857-862
    Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan 333, Taiwan. Electronic address:
    Objective: Single-nucleotide polymorphism (SNP) microarrays and whole-exome sequencing (WES) are tools to precisely diagnose rare autosomal recessive (AR) diseases. In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents.

    Case Report: The baby, born at 36 gestational weeks had a small thoracic cage, symmetric short proximal bones, and polydactyly. Read More

    Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report.
    Iran J Med Sci 2017 Sep;42(5):501-504
    Department of Oral Medicine and Radiology, Saraswati Dental College, Lucknow, Uttar Pradesh, India.
    The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16. Read More

    Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
    Am J Case Rep 2017 Dec 12;18:1325-1329. Epub 2017 Dec 12.
    CIBER Rare Diseases, Carlos III Health Institute, Madrid, Spain.
    BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35. Read More

    Pallister-Hall Syndrome.
    J Pediatr Neurosci 2017 Jul-Sep;12(3):276-279
    Neurocentre, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
    Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. Read More

    Pseudotyped baculovirus is an effective gene expression tool for studying molecular function during axolotl limb regeneration.
    Dev Biol 2018 Jan 30;433(2):262-275. Epub 2017 Nov 30.
    DFG Research Center for Regenerative Therapies, Technische Universität Dresden, Fetscherstraße 105, 01307 Dresden, Germany. Electronic address:
    Axolotls can regenerate complex structures through recruitment and remodeling of cells within mature tissues. Accessing the underlying mechanisms at a molecular resolution is crucial to understand how injury triggers regeneration and how it proceeds. However, gene transformation in adult tissues can be challenging. Read More

    Gata6 restricts Isl1 to the posterior of nascent hindlimb buds through Isl1 cis-regulatory modules.
    Dev Biol 2018 Feb 7;434(1):74-83. Epub 2017 Dec 7.
    Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, United States; Stem Cell Institute, University of Minnesota, Minneapolis, MN, United States. Electronic address:
    Isl1 is required for two processes during hindlimb development: initiation of the processes directing hindlimb development in the lateral plate mesoderm and configuring posterior hindlimb field in the nascent hindlimb buds. During these processes, Isl1 expression is restricted to the posterior mesenchyme of hindlimb buds. How this dynamic change in Isl1 expression is regulated remains unknown. Read More

    [McKrittick-Wheelock syndrome. Report of one case].
    Rev Med Chil 2017 Jul;145(7):950-953
    Departamento de Medicina, Escuela de Medicina, Universidad de Valparaíso, Viña del Mar, Chile.
    McKittrick-Wheelock syndrome is caused by chronic water and electrolyte hypersecretion from an intestinal tumor, usually a villous adenoma, located in the rectum or sigmoid. Patients often have dehydration, hypovolemic shock and kidney failure associated with hypokalemia, hyponatremia, hypochloremia and metabolic acidosis. We report a 62-year-old male, suffering chronic diarrhea for eight years who was admitted after a syncope. Read More

    Cell cycle-related kinase regulates mammalian eye development through positive and negative regulation of the Hedgehog pathway.
    Dev Biol 2018 Feb 21;434(1):24-35. Epub 2017 Nov 21.
    Department of Genetics, University of Georgia, Athens, GA 30602, USA. Electronic address:
    Cell cycle-related kinase (CCRK) is a conserved regulator of ciliogenesis whose loss in mice leads to a wide range of developmental defects, including exencephaly, preaxial polydactyly, skeletal abnormalities, and microphthalmia. Here, we investigate the role of CCRK in mouse eye development. Ccrk mutants show dramatic patterning defects, with an expansion of the optic stalk domain into the optic cup, as well as an expansion of the retinal pigment epithelium (RPE) into neural retina (NR) territory. Read More

    Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.
    Am J Med Genet A 2018 Jan 21;176(1):34-40. Epub 2017 Nov 21.
    Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
    Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. Read More

    Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
    Am J Med Genet A 2017 Nov 21. Epub 2017 Nov 21.
    Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
    The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. Read More

    Firm Elevation of Reconstructed Auricle Using Polydactyly Digit in Microtia.
    J Craniofac Surg 2017 Nov 9. Epub 2017 Nov 9.
    Department of Plastic and Reconstructive Surgery, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Korea.
    Total ear reconstruction for microtia is usually accomplished in 2 stages which is known as Nagata technique. After framework fabrication and implantation, the elevation procedure is required as a second step surgery. The authors are introducing a novel material for augmenting projection of rib cartilage framework in microtia treatment. Read More

    Homozygous mutation ina gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    J Med Genet 2018 Mar 10;55(3):189-197. Epub 2017 Nov 10.
    Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
    Background: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.

    Methods: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Read More

    Familial Pallister-Hall in adulthood.
    Neuro Endocrinol Lett 2017 Oct;38(5):329-331
    Endocrinology, Metabolism and Diabetes, Department of Medicine, College of Medicine and Department of Neurosurgery, University of Oklahoma Health Sciences Center; Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation; US Department of Veterans Affairs Medical Center, Oklahoma City, OK, USA.
    Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. Read More

    Homozygous Dkk1 Knockout Mice Exhibit High Bone Mass Phenotype Due to Increased Bone Formation.
    Calcif Tissue Int 2018 Jan 6;102(1):105-116. Epub 2017 Nov 6.
    Orthopaedic Research & Biotechnology Unit, The Children's Hospital at Westmead, Research Building, Locked Bag 4001, Westmead, NSW, 2145, Australia.
    Wnt antagonist Dkk1 is a negative regulator of bone formation and Dkk1heterozygous mice display a high bone mass phenotype. Complete loss of Dkk1 function disrupts embryonic head development. Homozygous Dkk1mice that were heterozygous for Wnt3 loss of function mutation (termed Dkk1 KO) are viable and allowed studying the effects of homozygous inactivation of Dkk1 on bone formation. Read More

    A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.
    Calcif Tissue Int 2018 Mar 2;102(3):348-357. Epub 2017 Nov 2.
    Department of Orthopaedic Surgery, University of Virginia, 135 Hospital Dr., Charlottesville, VA, 22908, USA.
    An autosomal-recessive inactivating mutation R272Q in the human intestinal cell kinase (ICK) gene caused profound multiplex developmental defects in human endocrine-cerebro-osteodysplasia (ECO) syndrome. ECO patients exhibited a wide variety of skeletal abnormalities, yet the underlying mechanisms by which ICK regulates skeletal development remained largely unknown. The goal of this study was to understand the structural and mechanistic basis underlying skeletal anomalies caused by ICK dysfunction. Read More

    Treatment of postaxial polydactyly with plantar plate and medial collateral ligament reconstruction after supernumerary excision: A case report.
    SAGE Open Med Case Rep 2017 17;5:2050313X17737197. Epub 2017 Oct 17.
    Department of Orthopedics, Hospital Clinico, University of Chile, Santiago, Chile.
    Introduction: Polydactyly is the most common congenital foot anomaly and consists of partial or complete duplication of a toe. Traditionally, surgical treatment has been amputation. There is little evidence when surgical treatment requires repairing the stabilizing structures of the metatarsophalangeal joint. Read More

    Management of Postaxial Polydactyly in the Neonatal Unit.
    J Am Osteopath Assoc 2017 Nov;117(11):719-721
    Postaxial type B polydactyly is the presence of a supernumerary digit attached by soft tissue in a pedunculated fashion to the fifth digit. In the present case, a newborn with bilateral postaxial type B polydactyly underwent suture ligation to remove the supernumerary digit, but multiple ligation attempts were required. Ultimately, residual tissue remained bilaterally, but it did not seem to be painful. Read More

    Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
    Hum Mutat 2018 Jan 6;39(1):152-166. Epub 2017 Nov 6.
    Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles, Los Angeles, California.
    Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes. Read More

    Review and experimental evaluation of the embryonic development and evolutionary history of flipper development and hyperphalangy in dolphins (Cetacea: Mammalia).
    Genesis 2018 Jan 25;56(1). Epub 2017 Oct 25.
    Department of Anatomy and Neurobiology, NEOMED, Rootstown, OH, 44272-0095.
    Cetaceans are the only mammals to have evolved hyperphalangy, an increase in the number of phalanges beyond the mammalian plesiomorphic condition of three phalanges per digit. In this study, cetaceans were used as a novel model to review previous studies of mammalian hyperphalangy and contribute new experimental evidence as to the molecular origins of this phenotype in embryos of the pantropical spotted dolphin (Stenella attenuata). Results show embryos of dolphins, mice, and pigs share similar spatiotemporal patterns of signaling proteins known to shape limbs of mammals (e. Read More

    Defective ciliogenesis in INPP5E-related Joubert syndrome.
    Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.
    NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
    Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Read More

    BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.
    PLoS Genet 2017 Oct 19;13(10):e1007057. Epub 2017 Oct 19.
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States.
    Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored. Read More

    Isolated heptadactylia: A case report of central polydactyly of the foot.
    Medicine (Baltimore) 2017 Oct;96(42):e8324
    Pediatric Orthopedics and Traumatology Unit, Lausanne University Hospital, Lausanne, Switzerland.
    Rationale: Heptadactylia is a rare congenital disorder from the polydactyly family. Polydactyly is generally classified into 3 major groups: preaxial (medial ray), postaxial (lateral ray), and central polydactyly. Most common cases are related to preaxial or postaxial polydactyly. Read More

    Association of SNP rs80659072 in the ZRS with polydactyly in Beijing You chickens.
    PLoS One 2017 9;12(10):e0185953. Epub 2017 Oct 9.
    Institute of Animal Husbandry and Veterinary Medicine, Beijing Academy of Agriculture and Forestry Sciences, Beijing, P. R. China.
    The Beijing You chicken is a Chinese native breed with superior meat quality and a unique appearance. The G/T mutation of SNP rs80659072 in the Shh long-range regulator of GGA2 is highly associated with the polydactyly phenotype in some chicken breeds. In the present study, this SNP was genotyped using the TaqMan detection method, and its association with the number of toes was analyzed in a flock of 158 birds of the Beijing You population maintained at the Beijing Academy of Agriculture and Forestry Sciences. Read More

    GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
    Hum Mol Genet 2017 Dec;26(23):4556-4571
    Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, 28029 Madrid, Spain.
    GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. Read More

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