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    Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly; clinical implications.
    Clin Endocrinol (Oxf) 2018 Jun 7. Epub 2018 Jun 7.
    Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.
    Congenital panhypopituitarism refers to the deficiency of two or more pituitary hormones in the newborn. It is a rare condition of which early recognition is of great importance because of its life threatening potential and its deleterious effects on growth and development. The aetiology remains unsolved in 80-90% of cases. Read More

    A Newborn with Rare McKusick Syndrome.
    J Coll Physicians Surg Pak 2018 Jun;28(6):S140-S142
    Department of Neonatology, Children Hospital, PIMS, Islamabad.
    McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. Read More

    Prehistoric polydactylism: Biological evidence and rock art representation from the Atacama Desert in northern Chile.
    Int J Paleopathol 2018 Jun 1;22:54-65. Epub 2018 Jun 1.
    Departamento de Antropología, Universidad de Tarapacá, Arica, Chile.
    A review of the bioarchaeological collections from the site Morro de Arica in northern Chile allowed the identification of two cases of human polydactyly. Both cases are from the Chinchorro culture, hunters, fishers, and gatherers with a maritime orientation who inhabited the coast of the Atacama Desert (9000-3400 BP). Additionally, the analyses of 75 rock art sites in the area, from the Formative to Late Intermediate Periods (3000-550 BP), allowed the identification of hands and feet with six digits. Read More

    Acquired digital fibrokeratoma: review of its clinical and dermoscopic features and differential diagnosis.
    Int J Dermatol 2018 May 19. Epub 2018 May 19.
    Veterans Affairs Medical Center, Brooklyn, NY, USA.
    Acquired digital fibrokeratoma (ADFK) is a rare, benign, fibrous tumor that most often occurs on fingers. It may resemble a rudimentary supernumerary digit and is often misdiagnosed as another common benign condition, such as common wart. It is typically asymptomatic and occurs as a solitary nodule less than 1 cm in diameter. Read More

    Complete First Ray Polydactyly: A Case Report.
    J Foot Ankle Surg 2018 May 7. Epub 2018 May 7.
    Assistant Professor of Radiology, Department of Medicine and Radiology, Dr. William M. Scholl College of Podiatric Medicine, Chicago, IL.
    Polydactyly has been described as the most common congenital deformity in children. However, it is less common in the foot, with surgical treatment for the deformity less commonly described in reported studies. We present a rare case of polydactyly, with complete first ray duplication, in an infant female. Read More

    A threshold model for polydactyly.
    Prog Biophys Mol Biol 2018 Apr 25. Epub 2018 Apr 25.
    Department of Theoretical Biology, University of Vienna, Althanstraße 14, 1090 Vienna, Austria. Electronic address:
    We present a cellular automaton-based model for threshold behaviors in vertebrate digit patterning and polydactyly formation. The rules of the model follow classical reactor-diffusion algorithms. Yet it is not physical diffusion that is taken as the required natural agent but the propagation of cellular states, which can be represented by the same differential equations. Read More

    Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
    Clin Genet 2018 May 3. Epub 2018 May 3.
    Department of Pediatrics, Sapienza University, Rome, Italy.
    The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling. Hh signaling coordinates multiple aspects of left-right lateralization and cardiovascular growth. Read More

    Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
    Am J Med Genet A 2018 Apr 27. Epub 2018 Apr 27.
    Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.
    Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c. Read More

    On-Top-Plasty for Atypical Thumb Duplication: A Case Report With 10 Year Follow-up.
    Hand (N Y) 2018 Apr 1:1558944718770770. Epub 2018 Apr 1.
    1 Universitat de Barcelona, Barcelona, Spain.
    Background: A very uncommon pattern of thumb duplication consists of an ulnar-side floating thumb and a radial-side distally hypoplastic thumb.

    Methods: We report the case of a 15-month-old child with this type of thumb duplication on his right hand treated with an on-top-plasty technique. The ulnar-side segment was pedicled and transferred to the lateral thumb, which was distally resected. Read More

    Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
    Jpn J Ophthalmol 2018 Apr 17. Epub 2018 Apr 17.
    Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka, 431-3192, Japan.
    Purpose: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. Read More

    Developmental toxicity of flucytosine following administration to pregnant rats at a specific time point of organogenesis.
    Congenit Anom (Kyoto) 2018 Apr 13. Epub 2018 Apr 13.
    Faculty of Risk and Crisis Management, Chiba Institute of Science, Chiba, Japan.
    To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, viscerally, and skeletally examined. Maternal body weight gain and food consumption were suppressed the day after administration of a 35 mg/kg. Read More

    Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.
    Biomed Res Int 2018 13;2018:1573871. Epub 2018 Feb 13.
    King Saud University, Riyadh, Saudi Arabia.
    Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. Read More

    A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.
    Neuropediatrics 2018 Jun 11;49(3):222-224. Epub 2018 Apr 11.
    Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.

    Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.
    Gene Expr Patterns 2018 Apr 7;29:18-23. Epub 2018 Apr 7.
    Laboratory for Molecular and Developmental Biology, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka, 565-0871, Japan. Electronic address:
    Cilia are essential for sensory and motile functions across species. In humans, ciliary dysfunction causes "ciliopathies", which show severe developmental abnormalities in various tissues. Several missense mutations in intestinal cell kinase (ICK) gene lead to endocrine-cerebro-osteodysplasia syndrome or short rib-polydactyly syndrome, lethal recessive developmental ciliopathies. Read More

    Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
    Cell J 2018 Jul 18;20(2):284-289. Epub 2018 Mar 18.
    Noor Genetics Lab, Ahvaz, Iran.
    Bardet-Biedl syndrome (BBS) is a pleiotropic and multisystemic disorder characterized by rod-cone dystrophy, polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. This disorder is genetically heterogeneous. Until now, a total of nineteen genes have been identified for BBS whose mutations explain more than 80% of diagnosed cases. Read More

    A Modified Bilhaut-Cloquet Procedure for Zigzag Thumb Polydactyly Types III and IV.
    Plast Reconstr Surg Glob Open 2017 Dec 28;5(12):e1589. Epub 2017 Dec 28.
    Division of Plastic and Hand Surgery, King Saud University, Riyadh, Saudi Arabia.
    Background: A review of the English literature over the least 43 years revealed only a total of 53 cases of Wassel types III, IV, and VII treated by the Bilhaut-Cloquet (B-C) procedure. Furthermore, the detailed results and range of motion were only given in 2 series (a total of 9 cases).

    Methods: Four cases of Wassel types III and IV thumb duplications with zigzag deformity were treated with a modified B-C procedure. Read More

    Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
    Eur J Med Genet 2018 Mar 30. Epub 2018 Mar 30.
    Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
    Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma. Read More

    Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.
    J Hand Surg Eur Vol 2018 Jan 1:1753193418762959. Epub 2018 Jan 1.
    2 Division of Developmental Biology, University of Edinburgh, Edinburgh, UK. In collaboration with Roslin Institute Chicken Embryology (RICE).
    Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Read More

    Documenting Combined Congenital Upper Limb Anomalies Using the Oberg, Manske, and Tonkin Classification: Implications for Epidemiological Research and Outcome Comparisons.
    J Hand Surg Am 2018 Mar 21. Epub 2018 Mar 21.
    Department of Plastic and Reconstructive Surgery and Hand Surgery. Erasmus University Medical Center, Rotterdam, The Netherlands.
    Purpose: Congenital upper limb anomalies (CULAs) exhibit a wide spectrum of phenotypic manifestations. To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. The OMT classification allows for documentation of combined hand anomalies. Read More

    Polydactyly in Development, Inheritance, and Evolution.
    Q Rev Biol 2017 Mar;92(1):1-38
    The occurrence of supernumerary digits or toes in humans and other tetrapods has attracted general interest since antiquity and later influenced scientific theories of development, inheritance, and evolution. Seventeenth-century genealogical studies of polydactyly were at the beginning of an understanding of the rules of inheritance. Features of polydactyly were also part of the classical disputes on the nature of development, including the preformation-versus-epigenesis and the atavism-versus-malformation debates. Read More

    A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
    Genet Med 2018 Mar 15. Epub 2018 Mar 15.
    Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    PurposeThe zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud. Read More

    Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate.
    Arch Dis Child Educ Pract Ed 2018 Feb 28. Epub 2018 Feb 28.
    Neonatal Unit, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
    The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). Read More

    Ellis-Van Creveld Syndrome in a Neonate.
    J Coll Physicians Surg Pak 2018 Mar;28(3):S44-S45
    Department of Paediatrics, KRL Hospital, Islamabad.
    Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. Read More

    Meckel Gruber syndrome associated with anencephaly-an unusual reported case.
    Oxf Med Case Reports 2018 Feb 9;2018(2):omx092. Epub 2018 Feb 9.
    Department of Obstetrics and Gynaecology, Ibri Regional Hospital, Ministry of Health, Ibri, Oman.
    Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Read More

    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 Jun 6;93(6):1205-1209. Epub 2018 Apr 6.
    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 syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes 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 01;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 01;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 01 23. Epub 2018 Jan 23.
    Sant Joan de Deu Chidlren`s Hospital, Pediatric Orthopaedic Surgery Department Barcelona. Spain.
    Background: Thumb duplication, also called radial or preaxial polydactyly, is classified as an alteration of the radio-ulnar axis in the formation and differentiation of the hand plate, according to the Oberg, Manske and Tonkin classification.

    Objective: Radial polydactyly is a common upper limb malformation. This paper is a comprehensive analysis of radial polydactyly, its genetic explanation, classification, surgical techniques, functional results, as well as present and future scientific evidence on this congenital pathology. 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 03 23;110(4):364-371. 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 for in 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 died of 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 May 9;7(1):94-97. 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 of and in 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

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