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    Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
    Am J Med Genet A 2017 Apr 19. Epub 2017 Apr 19.
    Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
    We previously reported exome sequencing in a short-rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were identified in SRTD-associated genes in 10 of 11 cases. A heterozygous stop mutation in the known SRTD gene WDR60 was identified in the remaining case; no novel candidate gene/s were suggested by homozygous/compound heterozygous analysis. This case was thus considered unsolved. Read More

    Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
    Cilia 2017 10;6. Epub 2017 Apr 10.
    Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, CA 90095 USA.
    Background: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, polydactyly and, often, multi-organ system involvement. SRPS shows extensive locus heterogeneity with mutations in genes encoding proteins that participate in cilia formation and/or function. Read More

    Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
    Clin Case Rep 2017 Apr 2;5(4):449-453. Epub 2017 Mar 2.
    Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
    Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly. Read More

    Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration.
    Fetal Diagn Ther 2017 Apr 8. Epub 2017 Apr 8.
    Department of Obstetrics and Gynecology, Parma University Hospital, Parma, Italy.
    We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. Read More

    Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.
    Hum Mol Genet 2017 Mar 31. Epub 2017 Mar 31.
    Department of Genetic Medicine.
    The Wdr34 gene encodes an intermediate chain of cytoplasmic dynein 2, the motor for retrograde intraflagellar transport (IFT) in primary cilia. Although mutations in human WDR34 have recently been reported, the association of WDR34 function with Hedgehog (Hh) signaling has not been established, and actual cilia defects in the WDR34 mutant cells have also not been completely characterized. In the present study, we show that Wdr34 mutant mice die in midgestation and exhibit open brain and polydactyly phenotypes. Read More

    Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
    Eur J Med Genet 2017 Apr 1. Epub 2017 Apr 1.
    Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada. Electronic address:
    The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to contain many ID-related genes and males show a marked predominance for intellectual disability. Here we report two females with syndromic intellectual disability. Read More

    Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
    Am J Med Genet A 2017 May 4;173(5):1353-1357. Epub 2017 Apr 4.
    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
    Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. Read More

    Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. Case report and literature review.
    Clin Genet 2017 Apr 4. Epub 2017 Apr 4.
    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, 00146, Italy.
    Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In approximately 30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Read More

    Mortality in Joubert syndrome.
    Am J Med Genet A 2017 May 28;173(5):1237-1242. Epub 2017 Mar 28.
    Department of Pediatrics, University of Washington, Seattle, Washington.
    Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and improve the lives of patients with JS. Read More

    Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
    Am J Med Genet A 2017 May 28;173(5):1186-1189. Epub 2017 Mar 28.
    Department of Medical Genetics, Skeletal Dysplasia Group, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
    Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. Read More

    Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation.
    Saudi J Kidney Dis Transpl 2017 Mar-Apr;28(2):384-387
    Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
    Bardet-Biedl syndrome (BBS) is a multisystem autosomal recessive disorder with clinical and genetic heterogeneity. It is a type of ciliopathy characterized by retinal dystrophy, central obesity, polydactyly, cognitive impairment, and gonadal and renal dysgenesis. It has been suggested that the involved proteins attach to the basal body of ciliated cells making this a disorder of ciliary dysfunction. Read More

    Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
    Gene 2017 Mar 21. Epub 2017 Mar 21.
    Institute of Human Genetics, Technical University Munich, Munich, Germany.
    Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1. Read More

    Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
    Am J Med Genet A 2017 May 23;173(5):1364-1368. Epub 2017 Mar 23.
    Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
    Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Read More

    Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.
    Eur J Med Genet 2017 May 14;60(5):268-274. Epub 2017 Mar 14.
    Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address:
    Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial and postaxial subtypes and subtypes A and B. Most polydactyly entities are associated with GLI3 mutation. We report on 10 affected individuals from a large Pakistani kindred initially evaluated as a possible new condition. Read More

    A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
    Clin Genet 2017 Mar 14. Epub 2017 Mar 14.
    Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.
    Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. Read More

    Polydactyly suggesting local husbandry of Pre-Columbian camelids: A case from Castillo de Huarmey archaeological site, northern coast of Peru.
    Int J Paleopathol 2017 Mar 29;16:40-43. Epub 2016 Nov 29.
    Institute of Archaeology, University of Warsaw, Poland. Electronic address:
    Three camelid metapodials with polydactyly (additional digits) were found at the Wari culture archaeological site (dated to the Middle Horizon) of Castillo de Huarmey. The anomalous bones were excavated among numerous remains, and presumably represent animals that were sacrificed within the principal mortuary mausoleum. The bones derive from at least two individuals. Read More

    Reconstruction of Wassel Type VI Radial Polydactyly with Triphalangeal Thumb Using an On-top Osteotomy.
    Plast Reconstr Surg Glob Open 2017 Feb 1;5(2):e1216. Epub 2017 Feb 1.
    Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
    Background: The purpose of this study was to present a novel surgical technique using an on-top osteotomy and to assess the clinical and radiographic outcomes for the triphalangeal Wassel type VI thumb duplication patients.

    Methods: The surgical technique involves ablation of the radial thumb at distal one-third of the metacarpal, corresponding metacarpal osteotomy of the ulnar thumb, with amalgamation of 2 metacarpals and reconstruction of the ulnar thumb by a series of soft tissue procedures. Clinical and radiologic outcomes were evaluated by using the Japanese Society for Surgery of the Hand evaluation form at a minimum of 30 months. Read More

    Targeted prenatal diagnosis of Pallister-Killian syndrome.
    Prenat Diagn 2017 Feb 23. Epub 2017 Feb 23.
    I Clinic of Obstetrics and Gynecology, Professor Witold Orłowski Independent Public Clinical Hospital - Centre of Postgraduate Medical Education, Warsaw, Poland.
    Objective: To present five new cases of prenatally diagnosed Pallister-Killian syndrome (PKS) and to propose an approach for a targeted diagnosis.

    Method: We retrospectively analyzed ultrasound findings and cytogenetic results in PKS. We also searched through dysmorphology databases for features occurring in PKS that could potentially be seen in prenatal ultrasound examination. Read More

    GLI3-related polydactyly: a review.
    Clin Genet 2017 Feb 22. Epub 2017 Feb 22.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
    GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Read More

    Ciliopathies: Genetics in Pediatric Medicine.
    J Pediatr Genet 2017 Mar 10;6(1):18-29. Epub 2016 Nov 10.
    Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada.
    Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Read More

    Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association.
    Rom J Morphol Embryol 2016 ;57(4):1403-1408
    Department of Obstetrics and Gynecology, Faculty of Medicine, "Ovidius" University, University Regional Emergency Hospital, Constanta, Romania;
    Bardet-Biedl syndrome (BBS) represents a rare ciliopathy recessive autosomal inherited. The main clinical features are retinal dystrophy, postaxial polydactyly, obesity, different degrees of cognitive deficit, renal impairment, hypogonadism and genital malformations. The genetic explanation consists in BBS genes mutations, which encode modified proteins, altering the function of the immotile cilia. Read More

    Metacarpal Bone Plane Examination by Ultrasonography for the Diagnosis of Fetal Forearm and Hand Deformity.
    Sci Rep 2017 Feb 7;7:42161. Epub 2017 Feb 7.
    Ultrasound Department, The International Peace Maternity &Child Health Hospital of China Welfare Institute, 200030, Shanghai, China.
    We explored the value of the metacarpal bone plane in screening for serious fetal forearm and hand deformities, excluding simple polydactyly and dactylion deformity, by ultrasonographic examination. Observed the second to fifth metacarpal bone plane of fetuses in 20,139 pregnant women at a gestational age of 16 to 30 weeks in The International Peace Maternity &Child Health Hospital of China Welfare Institute (IPMCH). There was a total 138 cases of fetal forearm and/or hand deformity among the 20,139 pregnant women. Read More

    A rare case of unilateral postaxial duplicated foot in a developmentally normal child.
    J Orthop Surg (Hong Kong) 2017 Jan;25(1):2309499016684989
    3 Department of Nursing, Faculty of Medicine and Health Medicine, Universiti Malaysia Sarawak (UNIMAS), Kota Samarahan, Sarawak, Malaysia.
    Diplopodia, being a rare congenital disorder, is infrequently discussed in published texts. Most reported cases have accounted the involvement of duplicated preaxial digits with other associated organ system and physical deformities. Here, we present an unusual case of isolated diplopodia involving postaxial toes in a child with no other organ and physical abnormalities. Read More

    [Meckel Gruber syndrome: about a rare case].
    Pan Afr Med J 2016 29;25:43. Epub 2016 Sep 29.
    Service de Gynécologie Obstétrique 'C', CHU Ibn Rochd, Casablanca, Maroc.
    Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Read More

    Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.
    Urology 2017 Jan 30. Epub 2017 Jan 30.
    Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Division of Human Genetics, Rahima Moosa Mother & Child (Coronation) Hospital, National Health Laboratory Service (NHLS), Johannesburg, South Africa.
    A 3-year-old female child presented with a history of recurrent urinary tract infections. On general examination, polydactyly and a pelvic mass were present. An imperforate hymen was also documented on vaginal inspection. Read More

    Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
    BMC Med Genet 2017 Feb 1;18(1):10. Epub 2017 Feb 1.
    CEINGE-Biotecnologie Avanzate s.c.a r.l., Via Gaetano Salvatore 486, I-80145, Naples, Italy.
    Background: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. Read More

    SHH Protein Variance in the Limb Bud Is Constrained by Feedback Regulation and Correlates with Altered Digit Patterning.
    G3 (Bethesda) 2017 Mar 10;7(3):851-858. Epub 2017 Mar 10.
    Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, Florida 32610
    mRNA variance has been proposed to play key roles in normal development, population fitness, adaptability, and disease. While variance in gene expression levels may be beneficial for certain cellular processes, for example in a cell's ability to respond to external stimuli, variance may be detrimental for the development of some organs. In the bilaterally symmetric vertebrate limb buds, the amount of Sonic Hedgehog (SHH) protein present at specific stages of development is essential to ensure proper patterning of this structure. Read More

    Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.
    Dev Dyn 2017 May 27;246(5):392-402. Epub 2017 Feb 27.
    Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
    Background: Polydactyly is a group of congenital limb malformations that show high degree of phenotypic variability and genetic heterogeneity.

    Results: In the present study, four genomic regions (exons of GLI3, SHH, and noncoding sequences of preZRS and ZRS) involved in hedgehog (Hh) signaling pathway were sequenced for 102 unrelated Chinese children with nonsyndromic polydactyly. Two GLI3 variants (c. Read More

    Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome.
    Int J Clin Pediatr Dent 2016 Oct-Dec;9(4):379-383. Epub 2016 Dec 5.
    Director Principal and Head, Department of Prosthodontics, Maulana Azad Institute of Dental Sciences, New Delhi, India.
    Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. Read More

    Teratogenic effects of in utero exposure to di-(2-ethylhexyl)-phthalate (DEHP) in B6:129S4 mice.
    Toxicol Sci 2017 Jan 25. Epub 2017 Jan 25.
    Reproductive Developmental Biology Group and †Biostatistics & Computational Biology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA
    Intrauterine exposure to phthalates is known to cause disorders of male reproductive function including androgen insufficiency, decreased fertility, and germ cell defects in rodents. In this study, we set out to investigate the effects of intrauterine exposure to di-(2-ethylhexyl)-phthalate (DEHP) on fetal development of the B6:129S4 mouse strain. Time-mated pregnant C57BL/6 dams were exposed to 0, 5, 250, or 500 mg/kg DEHP with corn oil as the vehicle via oral gavage from embryonic days (E)7 to 16. Read More

    A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
    BMC Med Genet 2017 Jan 13;18(1). Epub 2017 Jan 13.
    Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.
    Background: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder. Read More

    Inactivation of Sonic Hedgehog Signaling and Polydactyly in Limbs of Hereditary Multiple Malformation, a Novel Type of Talpid Mutant.
    Front Cell Dev Biol 2016 27;4:149. Epub 2016 Dec 27.
    Division of Biological Science, Graduate School of Science, Nagoya University Nagoya, Japan.
    Hereditary Multiple Malformation (HMM) is a naturally occurring, autosomal recessive, homozygous lethal mutation found in Japanese quail. Homozygote embryos (hmm(-/-)) show polydactyly similar to talpid(2) and talpid(3) mutants. Here we characterize the molecular profile of the hmm(-/-) limb bud and identify the cellular mechanisms that cause its polydactyly. Read More

    Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
    J Dent Res 2017 Apr 12;96(4):421-429. Epub 2017 Jan 12.
    1 Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.
    Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by short stature and postaxial polydactyly. A series of dental abnormalities, including hypomorphic enamel formation, has been reported in patients with EvC. Despite previous studies that attempted to uncover the mechanism leading to abnormal tooth development, little is known regarding how hypomorphic enamel is formed in patients with EvC. Read More

    Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease.
    Mol Med Rep 2017 Feb 29;15(2):793-797. Epub 2016 Dec 29.
    Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China.
    Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Read More

    Rare case of tibial hemimelia, preaxial polydactyly, and club foot.
    World J Clin Cases 2016 Dec;4(12):401-408
    Guinevere Granite, Department of Anatomy and Neurobiology, School of Medicine, University of Maryland, Baltimore, MD 21201, United States.
    A seven-month old female presented with left tibial hemimelia (or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot (congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-rays, and computed tomography (CT) scans. Read More

    Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
    PLoS Genet 2016 Dec 27;12(12):e1006510. Epub 2016 Dec 27.
    Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Michigan, United States of America.
    Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. Read More

    Efficiency of Human Epiphyseal Chondrocytes with Differential Replication Numbers for Cellular Therapy Products.
    Biomed Res Int 2016 24;2016:6437658. Epub 2016 Nov 24.
    Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
    The cell-based therapy for cartilage or bone requires a large number of cells; serial passages of chondrocytes are, therefore, needed. However, fates of expanded chondrocytes from extra fingers remain unclarified. The chondrocytes from human epiphyses morphologically changed from small polygonal cells to bipolar elongated spindle cells and to large polygonal cells with degeneration at early passages. Read More

    INPP5E regulates phosphoinositide-dependent cilia transition zone function.
    J Cell Biol 2017 Jan 20;216(1):247-263. Epub 2016 Dec 20.
    Cancer Program, Monash Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia
    Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. Read More

    [Prevalence of birth defects in Risaralda, 2010-2013].
    Biomedica 2016 Dec 1;36(4):556-563. Epub 2016 Dec 1.
    Grupo Salud Comfamiliar, Clínica Comfamiliar, Pereira, Colombia Estudio Colaborativo Latinoamericano de Malformaciones Congénitas, ECLAMC, Bogotá, D.C., Colombia.
    Introduction: The data regarding birth defects at local levels in developing countries like Colombia are scarce.

    Objective: To describe the profile of congenital abnormalities in the province of Risaralda, Colombia.

    Materials And Methods: We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations. Read More

    [Progress of research on the pathogenesis of obesity in Bardet-Biedl syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Dec;33(6):871-874
    College of Medicine, Kunming University of Science and Technology, Kunming, Yunnan 650504, China.
    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. Read More

    Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
    Clin Genet 2016 Dec 7. Epub 2016 Dec 7.
    Department of Human Genetics, Los Angeles, CA, USA.
    The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. Read More

    An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.
    Sci Rep 2016 Dec 6;6:38500. Epub 2016 Dec 6.
    Key Laboratory for Rare &Uncommon diseases of Shandong province, Institute of Basic Medicine, Shandong Academy of Medical Sciences, 18877 Jingshi Road, Jinan 250062, Shandong, China.
    Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear. Read More

    An unusual presentation of postaxial polydactyly of the foot.
    Int Wound J 2016 Dec 2. Epub 2016 Dec 2.
    Department of Pediatric Surgery, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain.
    A 6-month-old Caucasian baby is described with a postaxial polydactyly of the letf foot. Radiographic examination revealed the accessory digit was composed of soft tissue, some with a tiny osseous element, originated from around the metatarsophalangeal joint, defined by floating type (FT). The parents had consistent difficulty putting shoes. Read More

    The Duplicated Thumb: A Review.
    Semin Plast Surg 2016 Nov;30(4):181-188
    Division of Plastic Surgery, Baylor College of Medicine, Houston, Texas.
    Preaxial polydactyly is a common, often sporadic, congenital anomaly that must be addressed surgically early in life. Ideally, the surgeon seeks to accomplish three goals: construction of a thumb that is adequate in size, preservation of pinch function, and reconstruction of all components in one procedure. Although each case is unique, several classification systems attempt to describe the various types. Read More

    Klippel-Trenaunay Syndrome: A Case Report.
    J Nepal Health Res Counc 2016 May;14(33):135-139
    Kanti Children Hospital, Kathmandu, Nepal.
    Klippel-Trenaunaysyndrome(KTS) is a rare congenital condition usually presenting with port wine stains, excessive growth of bones and soft tissue and varicose veins which most commonly occurs in the legs, but it also may affect the arms, face, head, or internal organs. We report a case of term male neonate with clinical findings of Port-wine stain, multiple cystic swellings with ultrasonographic findings suggestive of vascular malformations and limb abnormalities in the form ofsoft tissue hypertrophy of right upper limb, polydactyly of right hand and syndactyly of left hand consistent withKlippel-Trenaunay syndrome. Read More

    Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome.
    J Clin Ultrasound 2016 Nov 22. Epub 2016 Nov 22.
    Department of Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
    Objective: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination.

    Methods: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM.

    Results: A total of 51 cases with UEM were detected. Read More

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