Search our Database of Scientific Publications and Authors

I’m looking for a

    3184 results match your criteria Supernumerary Digit

    1 OF 64

    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Am J Hum Genet 2017 Jun 14. Epub 2017 Jun 14.
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:
    Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. Read More

    Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
    Sci China Life Sci 2017 Jun 14. Epub 2017 Jun 14.
    Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children of Ministry of Education; Nephrology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. Read More

    Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
    Pediatr Nephrol 2017 Jun 15. Epub 2017 Jun 15.
    Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
    Background: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly. Read More

    Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
    Am J Med Genet A 2017 Jun 9. Epub 2017 Jun 9.
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
    Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24. Read More

    Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
    J Ultrasound 2017 Jun 4;20(2):167-170. Epub 2017 Jan 4.
    Department of Obstetrics and Gynecology, Maulana Azad Medical College, New Delhi, India.
    Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy. Read More

    Analysis of surgical results and of residual postoperative deformities in preaxial polydactyly of the hand.
    J Plast Reconstr Aesthet Surg 2017 May 22. Epub 2017 May 22.
    Department of Surgery and Anatomy, Division of Plastic Surgery, Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, 9.°andar, Campus Universitário s/n - Monte Alegre, CEP 14048-900, Ribeirão Preto, SP, Brazil. Electronic address:
    Purpose: Polydactyly is the most common congenital anomaly of the hand. It may occur as a separate event or as part of a syndrome, with preaxial polydactyly of the hand (or thumb duplication) being the most common among Caucasians. The present study analyzed the surgical results and the residual postoperative deformities of patients with thumb duplication. Read More

    Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome.
    Indian J Orthop 2017 May-Jun;51(3):330-333
    Department of Spine Surgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
    Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. Read More

    Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
    JAMA Neurol 2017 May 30. Epub 2017 May 30.
    Institute of Neurogenetics, University Lübeck, Lübeck, Germany.
    Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum.

    Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment).

    Design, Setting, And Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Read More

    Noncontiguous Double Spinal Lipoma with Tethered Cord and Polydactyly: Two Different Embryological Events in One Patient.
    J Pediatr Neurosci 2017 Jan-Mar;12(1):43-45
    Department of Neurosurgery, MR Medical College, Kalaburagi, Karnataka, India.
    Lumbosacral lipoma is reported to occur in 4-8 of 100,000 patients. Sixty-six percent of lipomyelomeningocele in young patients have accompanied by hypertrophic filum terminale. It is rare to find two isolated spinal lipomas simultaneously. Read More

    Immunogenicity and immunomodulatory effects of the human chondrocytes, hChonJ.
    BMC Musculoskelet Disord 2017 May 18;18(1):199. Epub 2017 May 18.
    Institute of BioInnovation Research, Kolon Life Science, Inc., Gasan-dong, Geumcheon-gu, Seoul, Korea.
    Background: Invossa™ (TissueGene-C) is a cell and gene therapy for osteoarthritis. It is composed of primary human chondrocytes (hChonJ cells) and irradiated human chondrocytes modified to express TGF-β1 (hChonJb#7 cells). The hChonJ cells were isolated from a polydactyly donor, and TGF-β1 cDNA was delivered to the cells, generating hChonJb#7 cells. Read More

    Achondroplasia with Polydactyly: A Case Report.
    J Clin Diagn Res 2017 Mar 1;11(3):ZD14-ZD15. Epub 2017 Mar 1.
    Professor, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.
    An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". Read More

    Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.
    J Clin Diagn Res 2017 Mar 1;11(3):ND01-ND02. Epub 2017 Mar 1.
    Junior Resident, Department of Otorhinolaryngology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.
    Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Read More

    Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
    J Mol Diagn 2017 May 11. Epub 2017 May 11.
    Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address:
    Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome. Read More

    Genetic pattern and gene localization of polydactyly in Beijing fatty chicken.
    PLoS One 2017 10;12(5):e0176113. Epub 2017 May 10.
    Department of Animal Science, School of Agriculture and Biology, Shanghai Jiao Tong University; Shanghai Key Laboratory of Veterinary Biotechnology, Shanghai, China.
    Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and the determinant gene remain obscure. In this study, different types of polydactylism were classified by the numbers and the shapes of toes, including the newly defined subtypes of B' and G, for the Beijing fatty chicken, a native breed of chicken from China. Read More

    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
    Eur J Hum Genet 2017 May 10. Epub 2017 May 10.
    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
    Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive pattern. Read More

    An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
    Sci Rep 2017 May 9;7(1):1601. Epub 2017 May 9.
    Department of Pathology, Dunedin School of Medicine, University of Otago, PO Box 56, Dunedin 9054, New Zealand.
    Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p. Read More

    Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.
    Hum Mol Genet 2017 May 9. Epub 2017 May 9.
    Program for Skeletal Disease and Tumor Metastasis, Center for Cancer and Cell Biology, Van Andel Research Institute, Grand Rapids, MI, 49503. USA.
    Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. Read More

    Dynein-Driven Retrograde Intraflagellar Transport Is Triphasic in C. elegans Sensory Cilia.
    Curr Biol 2017 May 4;27(10):1448-1461.e7. Epub 2017 May 4.
    Tsinghua-Peking Center for Life Sciences, School of Life Sciences and MOE Key Laboratory for Protein Science, Tsinghua University, Beijing 100084, China. Electronic address:
    Cytoplasmic dynein-2 powers retrograde intraflagellar transport that is essential for cilium formation and maintenance. Inactivation of dynein-2 by mutations in DYNC2H1 causes skeletal dysplasias, and it remains unclear how the dynein-2 heavy chain moves in cilia. Here, using the genome-editing technique to produce fluorescent dynein-2 heavy chain in Caenorhabditis elegans, we show by high-resolution live microscopy that dynein-2 moves in a surprising way along distinct ciliary domains. Read More

    Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
    Am J Med Genet A 2017 Jun 19;173(6):1698-1704. 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 8;41(4):314-316. 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 Jul;26(13):2386-2397
    Department of Genetic Medicine, Weill Medical College of Cornell University, W404, New York, NY 10065,USA.
    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 Jul 1;60(7):359-364. 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.
    Clin Genet 2017 Apr 4. Epub 2017 Apr 4.
    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, 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 ~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 Jun 21;616:41-44. 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 May 27;37(5):446-452. Epub 2017 Mar 27.
    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 May 30;103:224-226. 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

    1 OF 64