3,585 results match your criteria Supernumerary Digit


Re: Soldado F, Ledesma-Negreıros R, Barrera-Ochoa S. Vascularized volar cutaneous flap from the ablated digit to simultaneously address first web contracture in radial polydactyly. J Hand Surg Eur. 2020, 45: 86-8.

J Hand Surg Eur Vol 2020 Jun 29:1753193420935712. Epub 2020 Jun 29.

Department of Plastic Reconstructive and Aesthetic Surgery, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

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http://dx.doi.org/10.1177/1753193420935712DOI Listing

Mandibular-Pelvic-Patellar syndrome (MPP) is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Hum Mutat 2020 Jun 29. Epub 2020 Jun 29.

Service de génétique, Centre de Référence Anomalies du Développement et Centre de Compétences Maladies Osseuses Constitutionnelles, Hospices Civils de Lyon, Bron, France.

PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar and male genital abnormalities. Read More

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http://dx.doi.org/10.1002/humu.24070DOI Listing

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

J Med Genet 2020 Jun 26. Epub 2020 Jun 26.

Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands.

Introduction: Pathogenic DNA variants in the GLI-Kruppel family member 3 ( gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the correlation between reported limb anomalies and the reported variants in these GLI3-mediated polydactyly syndromes. Read More

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http://dx.doi.org/10.1136/jmedgenet-2020-106948DOI Listing

Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe.

Ann Plast Surg 2020 Jun 17. Epub 2020 Jun 17.

From the Department of Burn and Plastic Surgery, Children's Hospital of Chongqing Medical University.

Background: The aim of the study was to present a new operative technique for aesthetic and anatomic reconstruction of polysyndactyly of the fifth toe fused with the fourth toe.

Methods: Surgery was performed in 86 feet in 73 patients with polysyndactyly of the fifth toe fused with the fourth toe. The operation involved polydactyly excision, syndactyly release using an improved dorsal asymmetric gullwing flap for web space reconstruction without skin grafting, and simultaneous correction of valgus deformity and brachydactyly of the toes. Read More

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http://dx.doi.org/10.1097/SAP.0000000000002437DOI Listing

Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report.

Int J Appl Basic Med Res 2020 Apr-Jun;10(2):140-142. Epub 2020 Apr 2.

Department of Oral Medicine and Radiology, Malabar Dental College and Research Centre, Edappal, Kerala, India.

Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. Read More

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http://dx.doi.org/10.4103/ijabmr.IJABMR_391_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289203PMC

Reconstruction of Wassel IV-D radial polydactyly with a boot-shaped neurovascular island flap: A Consecutive series of 91 thumbs.

J Plast Reconstr Aesthet Surg 2020 May 26. Epub 2020 May 26.

Department of Hand Surgery, Wuxi 9th People's Hospital, Wuxi, China. Electronic address:

Introduction: Reconstruction of Wassel IV-D radial polydactyly is challenging and requires a custom strategy dependent on the relative size and shape of the radial and ulnar duplicates. Herein, we describe a technique using a boot-shaped neurovascular island flap and review our outcomes.

Methods: Ninety-one consecutive patients had reconstruction with a boot-shaped neurovascular island flap. Read More

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http://dx.doi.org/10.1016/j.bjps.2020.05.071DOI Listing

Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach.

Ultrasound 2019 Aug 15;27(3):196-201. Epub 2019 May 15.

Department of Obstetrics & Gynecology, Teerthanker Mahaveer Medical College & Research Centre, Teerthanker Mahaveer University, Moradabad, India.

Introduction: Skeletal dysplasia is a condition associated with various abnormalities of the skeleton and comprises multiple groups of disorders. Antenatal ultrasonographic assessment of the skeletal dysplasia requires a robust and systematic assessment of the long bones, fetal thorax, skull, spine, pelvis, hands and the feet. Large number of diseases, their overlapping phenotypic features and the lack of systematic approach lead to diagnostic inefficiency. Read More

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http://dx.doi.org/10.1177/1742271X19847223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273877PMC

Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.

J Clin Ultrasound 2020 Jun 14. Epub 2020 Jun 14.

Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand.

This report describes a variant of McKusick-Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre-axial mirror polydactyly of the left foot was suspected. Read More

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http://dx.doi.org/10.1002/jcu.22882DOI Listing

Genetic Instability of a Polydactyl Hypopigmented Cat With Squamous Cell Carcinoma-A Case Report.

Front Vet Sci 2020 12;7:258. Epub 2020 May 12.

Programa Internacional de Medicina, Universidad Autónoma de Guadalajara, Zapopan, Mexico.

Polydactyly, hypopigmentation, and squamous cell carcinoma are common in cats. However, a cat exhibiting all of these conditions has not yet been reported. This study presents the case of a 14- year-old male Mexican cat, hypopigmented, with supernumerary fingers, two preaxial and one on each posterior limb, admitted to the clinic with a lesion in the left periocular region. Read More

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http://dx.doi.org/10.3389/fvets.2020.00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247834PMC

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

J Matern Fetal Neonatal Med 2020 Jun 4:1-4. Epub 2020 Jun 4.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain.

Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. Read More

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http://dx.doi.org/10.1080/14767058.2020.1774541DOI Listing

Identification of novel compound heterozygous mutations of the gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly.

Intractable Rare Dis Res 2020 May;9(2):95-98

Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, Shandong, China.

A prenatal sonograph revealed a 26-week-old fetus with short limbs and a narrow chest in a 23-year-old woman with a history of fetal skeletal dysplasia. A single nucleotide polymorphism-based chromosomal microarray (CMA) indicated a normal karyotype, and no chromosomal segments with abnormal copy numbers were noted in the fetus. Whole exome sequencing identified compound heterozygous mutations in the gene responsible for a lethal type of bone growth disorder, short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3), and revealed a missense mutation c. Read More

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http://dx.doi.org/10.5582/irdr.2020.01031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263985PMC

Reconstruction of a distal index fingertip in a patient with thumb polydactyly: a case report.

J Hand Surg Eur Vol 2020 Jun 3:1753193420927585. Epub 2020 Jun 3.

Department of Orthopedic Surgery, The Fourth Affiliated Hospital of Kunming Medical University, Yunnan Province, China.

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http://dx.doi.org/10.1177/1753193420927585DOI Listing

Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands.

J Hand Surg Am 2020 May 27. Epub 2020 May 27.

Department of Orthopaedics and Traumatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong. Electronic address:

Purpose: This study was intended to characterize the epidemiological features of thumb polydactyly (TP) in South China.

Methods: Clinical records were retrieved from 1 central hospital in South China to identify the patients with a definite diagnosis of TP from January 2004 to January 2017. The cases were classified by their x-ray appearance. Read More

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http://dx.doi.org/10.1016/j.jhsa.2020.04.003DOI Listing

Evaluation and Management of Preaxial Polydactyly.

Curr Rev Musculoskelet Med 2020 May 29. Epub 2020 May 29.

Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Purpose Of Review: To provide a current review of the embryology, classification, evaluation, surgical management, and clinical outcomes related to preaxial polydactyly.

Recent Findings: Recent studies include a proposed embryologic link between preaxial polydactyly and other congenital abnormalities, an evaluation of long-term postsurgical outcomes, and an examination of important predictors for postsurgical outcomes. Preaxial polydactyly, while relatively uncommon, is a complex congenital hand abnormality that requires careful preoperative classification and proper surgical intervention timing to yield optimal outcomes. Read More

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http://dx.doi.org/10.1007/s12178-020-09644-wDOI Listing

Bardet-Biedl syndrome and related disorders in Japan.

J Hum Genet 2020 May 25. Epub 2020 May 25.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by obesity, mental impairment, rod-cone dystrophy, polydactyly, male hypogonadism, and renal abnormalities. This disorder is caused by mutations in BBS1-21. Alström syndrome (AS), caused solely by mutations in ALMS1, is another genetic obesity syndrome clinically similar to BBS. Read More

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http://dx.doi.org/10.1038/s10038-020-0778-yDOI Listing

Geminin is required for Hox gene regulation to pattern the developing limb.

Dev Biol 2020 Aug 23;464(1):11-23. Epub 2020 May 23.

Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO, 63110, USA. Electronic address:

Development of the complex structure of the vertebrate limb requires carefully orchestrated interactions between multiple regulatory pathways and proteins. Among these, precise regulation of 5' Hox transcription factor expression is essential for proper limb bud patterning and elaboration of distinct limb skeletal elements. Here, we identified Geminin (Gmnn) as a novel regulator of this process. Read More

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http://dx.doi.org/10.1016/j.ydbio.2020.05.007DOI Listing

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

Exp Mol Pathol 2020 May 21;115:104471. Epub 2020 May 21.

University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a developmental brain disorder characterized by an enlarged brain size with bilateral perisylvian polymicrogyria and a variable degree of ventriculomegaly. MPPH syndrome is associated with oromotor dysfunction, epilepsy, intellectual disability and postaxial hexadactyly. The molecular diagnosis of this disorder is established by the identification of a pathogenic variant in either AKT3, CCND2 or PIK3R2. Read More

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http://dx.doi.org/10.1016/j.yexmp.2020.104471DOI Listing

A systematic review and meta-analyses of pregnancy and fetal outcomes in women with multiple sclerosis: a contribution from the IMI2 ConcePTION project.

J Neurol 2020 May 22. Epub 2020 May 22.

Population Health Research Institute, St George's, University of London, London, UK.

Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is limited. The present study aims to summarize previous studies by performing a systematic review and meta-analyses. Read More

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http://dx.doi.org/10.1007/s00415-020-09913-1DOI Listing

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Genet Med 2020 May 19. Epub 2020 May 19.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.

Purpose: Genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized.

Methods: We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition. We also suggest a classification of clinical subtypes within the KAT6B disorder spectrum. Read More

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http://dx.doi.org/10.1038/s41436-020-0811-8DOI Listing
May 2020
7.329 Impact Factor

Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly.

Taiwan J Obstet Gynecol 2020 May;59(3):425-431

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) in a fetus with facial cleft and preaxial polydactyly.

Materials And Methods: A 37-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, and the result showed an aberrant chromosome 4 or 46,XX,add(4) (p15.3). Read More

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http://dx.doi.org/10.1016/j.tjog.2020.03.016DOI Listing

Association between maternal exposure to PM and polydactyly and syndactyly: A population-based case-control study in Liaoning province, China.

Environ Res 2020 Aug 11;187:109643. Epub 2020 May 11.

Department of Clinical Epidemiology, Shengjing Hospital of China Medical University, Shenyang, China. Electronic address:

Background: The number of studies on air pollution with birth defects as the primary outcome has increased dramatically over the past two decades, but the potential role of specific air pollutants in congenital limb anomalies remains unclear.

Objectives: To evaluate associations between preconception and first-trimester PM exposure and polydactyly and syndactyly in a population-based case-control study.

Methods: Polydactyly cases (n = 2605), syndactyly cases (n = 595), and controls without any birth defects (n = 7950) born between 2010 and 2015 were selected from the Maternal and Child Health Certificate Registry of Liaoning Province. Read More

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http://dx.doi.org/10.1016/j.envres.2020.109643DOI Listing

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Am J Hum Genet 2020 Jun 14;106(6):779-792. Epub 2020 May 14.

Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France. Electronic address:

The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cilium (PC) where major pathway components are dynamically enriched. These factors include smoothened (SMO) and patched, which constitute the core reception system for sonic hedgehog (SHH) as well as GLI transcription factors, the key mediators of the pathway. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273534PMC

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Am J Hum Genet 2020 Jun 7;106(6):893-904. Epub 2020 May 7.

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France. Electronic address:

Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273529PMC

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

Clin Genet 2020 May 3. Epub 2020 May 3.

Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Bardet-Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS in an autosomal recessive inheritance pattern. In this study, we investigated a cohort of 16 families (20 individuals) presenting with typical BBS originating from La Réunion Island using sequencing (Sanger and high-throughput methods) and SNP array. Read More

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http://dx.doi.org/10.1111/cge.13768DOI Listing
May 2020
3.931 Impact Factor

Cell cycle-related kinase is a crucial regulator for ciliogenesis and Hedgehog signaling in embryonic mouse lung development.

BMB Rep 2020 Apr 22. Epub 2020 Apr 22.

Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, 03722, South Korea.

Cell cycle-related kinase (CCRK) has a conserved role in ciliogenesis, and Ccrk defects in mice lead to developmental defects, including exencephaly, preaxial polydactyly, skeletal abnormalities, retinal degeneration, and polycystic kidney. Here, we found that Ccrk is highly expressed in mouse trachea and bronchioles. Ccrk mutants exhibited pulmonary hypoplasia and abnormal branching morphogenesis in respiratory organ development. Read More

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Treatment for Wassel Types V and VI Thumb Polydactyly.

J Hand Surg Asian Pac Vol 2020 Jun;25(2):153-157

Division of Orthopaedic Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Tokyo, Japan.

Polydactyly of the thumb is the most common congenital anomaly of the hand, but there have been few reports regarding Wassel types V and VI. The purpose of this study is to present our surgical strategies and outcomes for cases of Wassel types V and VI polydactyly of the thumb. Twenty-nine thumbs of 29 patients were included in this study; 17 cases were Wassel type V and 12 cases were type VI. Read More

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http://dx.doi.org/10.1142/S2424835520500162DOI Listing

Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.

CEN Case Rep 2020 Aug 6;9(3):260-265. Epub 2020 Apr 6.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by retinitis pigmentosa (RP), truncal obesity, cognitive impairment, hypogonadism in men, polydactyly, and renal abnormalities with severe renal dysfunction. Twenty-two causative genes have already been reported for this disorder. In this study, we identified two unrelated Japanese patients with clinical diagnoses of BBS associated with compound heterozygous SCLT1 mutation. Read More

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http://dx.doi.org/10.1007/s13730-020-00472-yDOI Listing

Whole genome resequencing reveals an association of ABCC4 variants with preaxial polydactyly in pigs.

BMC Genomics 2020 Mar 30;21(1):268. Epub 2020 Mar 30.

State Key Laboratory of Genetic Resources and Evolution, Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.

Background: Polydactyly is one of the most common congenital limb dysplasia in many animal species. Although preaxial polydactyly (PPD) has been comprehensively studied in humans as a common abnormality, the genetic variations in other animal species have not been fully understood. Herein, we focused on the pig, as an even-toed ungulate mammal model with its unique advantages in medical and genetic researches, two PPD families consisting of four affected and 20 normal individuals were sequenced. Read More

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http://dx.doi.org/10.1186/s12864-020-6690-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106734PMC
March 2020
3.986 Impact Factor

Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development.

Differentiation 2020 May - Jun;113:19-25. Epub 2020 Mar 14.

Shanghai Pediatric Congenital Heart Disease Institute and Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. Electronic address:

Laterality disease is frequently associated with congenital heart disease (CHD). However, it is unclear what is behind this association, a pleiotropic effect of common genetic causes of laterality diseases or the impact of abnormal left-right patterning on the downstream cardiovascular development. MEGF8 is a disease gene of Carpenter syndrome characterized by defective lateralization and CHD. Read More

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http://dx.doi.org/10.1016/j.diff.2020.03.002DOI Listing

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the Gene: First Case Report in Fujian Province of China.

Front Genet 2020 28;11:130. Epub 2020 Feb 28.

BGI Genomics, BGI-Shenzhen, Shenzhen, China.

Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog () regulatory element () which resides in intron 5 of the gene on chromosome 7q36.3. Read More

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http://dx.doi.org/10.3389/fgene.2020.00130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058806PMC
February 2020

[The Bardet-Biedl Syndrome - Diagnosis and Follow-up].

Klin Monbl Augenheilkd 2020 Mar 17;237(3):239-247. Epub 2020 Mar 17.

Senckenberg Zentrum für Humangenetik, Frankfurt am Main.

The Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy, which is accompanied by retinal disease, i.e. rod-cone dystrophy (retinitis pigmentosa, RP) and other symptoms, especially truncal obesity, polydactyly, renal abnormalities as well as reduced intelligence or learning difficulties. Read More

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http://dx.doi.org/10.1055/a-1118-3748DOI Listing

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.

J Med Genet 2020 Mar 16. Epub 2020 Mar 16.

Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Background: The of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause triphalangeal thumb (TPT) and polydactyly in affected families.

Objective: In this report, we describe two families with mild phenotypical presentation. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106685DOI Listing

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

Cell 2020 Mar 12;180(6):1262-1271.e15. Epub 2020 Mar 12.

Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA; U.S. Department of Energy Joint Genome Institute, Berkeley, CA 94720, USA; Comparative Biochemistry Program, University of California, Berkeley, CA 94720, USA. Electronic address:

Establishing causal links between non-coding variants and human phenotypes is an increasing challenge. Here, we introduce a high-throughput mouse reporter assay for assessing the pathogenic potential of human enhancer variants in vivo and examine nearly a thousand variants in an enhancer repeatedly linked to polydactyly. We show that 71% of all rare non-coding variants previously proposed as causal lead to reporter gene expression in a pattern consistent with their pathogenic role. Read More

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http://dx.doi.org/10.1016/j.cell.2020.02.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179509PMC

Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies.

Stem Cell Reports 2020 Mar;14(3):357-373

Stem Cell and Developmental Biology Laboratory, Hôpital Maisonneuve-Rosemont, 5415 Boul. Assomption, Montreal, QC H1T 2M4, Canada; Department of Neurosciences, University of Montreal, Montreal, QC H3C 3J7, Canada; Department of Ophthalmology, University of Montreal, Montreal, QC H3C 3J7, Canada. Electronic address:

Ciliopathies are heterogeneous genetic diseases affecting primary cilium structure and function. Meckel-Gruber (MKS) and Bardet-Biedl (BBS) syndromes are severe ciliopathies characterized by skeletal and neurodevelopment anomalies, including polydactyly, cognitive impairment, and retinal degeneration. We describe the generation and molecular characterization of human induced pluripotent stem cell (iPSC)-derived retinal sheets (RSs) from controls, and MKS (TMEM67) and BBS (BBS10) cases. Read More

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http://dx.doi.org/10.1016/j.stemcr.2020.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066374PMC

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.

Genomics 2020 Jul 5;112(4):2729-2733. Epub 2020 Mar 5.

Department Biochemistry, Abdul Wali Khan University, Mardan, Khyber Pakhtunkhwa, Pakistan. Electronic address:

Postaxial polydactyly (PAP) is characterized by development of extra digits, which mostly segregates in autosomal recessive pattern. The underlying genetic cause of recessive non-syndromic PAP type A has been associated with sequence variants in five different genes (ZNF141, IQCE, GLI1, FAM92A, KIAA0825). The present study was aimed to investigate clinical and genetic causes of PAPA in a consanguineous family of Pakistani origin. Read More

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http://dx.doi.org/10.1016/j.ygeno.2020.03.006DOI Listing
July 2020
2.284 Impact Factor

Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.

Eur J Hum Genet 2020 Jul 6;28(7):943-946. Epub 2020 Mar 6.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder of the cilia, often resulting in a phenotype of obesity, rod-cone dystrophy, a variable degree of intellectual disability, polydactyly, renal problems, and/or hypogonadism in males or genital abnormalities in females. We here report the case of an 11-year-old girl who presented with postaxial polydactyly, retinal dystrophy, and childhood obesity, suggesting Bardet-Biedl syndrome. She had no renal problems, developmental delay, or intellectual disability. Read More

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http://dx.doi.org/10.1038/s41431-020-0594-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316806PMC

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Pediatr Neurol 2020 May 4;106:43-49. Epub 2020 Feb 4.

Department of Pediatric Neurology, Rainbow Children Hospital, Hyderabad, India.

Background: Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosis. Joubert syndrome is a clinically and genetically heterogeneous disorder involving mutations in 35 ciliopathy-related genes. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.01.012DOI Listing

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis.

Taiwan J Obstet Gynecol 2020 Mar;59(2):306-313

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present a set of twins discordant for low-level mosaic trisomy 17 at amniocentesis, and we review the literature of heterokaryotypic monozygotic twins at amniocentesis.

Materials And Methods: We describe a monozygotic twin pregnancy with discordant karyotypes and structural abnormalities. A 22-year-old, primigravid woman underwent amniocentesis at 21 weeks of gestation because of an abnormal maternal serum screening result for Down syndrome. Read More

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http://dx.doi.org/10.1016/j.tjog.2020.01.022DOI Listing

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

Clin Genet 2020 Jun 10;97(6):915-919. Epub 2020 Mar 10.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510), postaxial polydactyly types A1 (PAPA1) and B (PAPB) (MIM #174200), and preaxial polydactyly type 4 (MIM #174700). All these disorders follow an autosomal dominant pattern of inheritance. Hypothalamic hamartomas (MIM 241800) is associated with somatic variants in GLI3. Read More

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http://dx.doi.org/10.1111/cge.13730DOI Listing

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014-2018.

J Matern Fetal Neonatal Med 2020 Feb 25:1-7. Epub 2020 Feb 25.

Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou, China.

Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. Read More

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http://dx.doi.org/10.1080/14767058.2020.1731459DOI Listing
February 2020

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Invest Ophthalmol Vis Sci 2020 02;61(2):29

,.

Purpose: Cone-rod dystrophy (CRD) is a rare hereditary eye disorder that causes progressive degeneration of cone and rod photoreceptors. More than 30 genes, including RAB28, have been associated with CRD; however, only a few RAB28 variants have been reported to be associated with CRD. In this study, we describe two brothers with CRD and a homozygous missense variant, c. Read More

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http://dx.doi.org/10.1167/iovs.61.2.29DOI Listing
February 2020

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Medicine (Baltimore) 2020 Feb;99(8):e19169

Laboratory of Medical Genetics.

Introduction: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities.

Patient Concerns: Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies.

Diagnosis: A custom NGS gene panel, including genes associated to skeletal ciliopathies, identified the homozygous KIAA0586 splicing variant c. Read More

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http://dx.doi.org/10.1097/MD.0000000000019169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034684PMC
February 2020

Ellis-van Creveld syndrome: Report of a case and recurrent variant.

J Gene Med 2020 Jun 17;22(6):e3175. Epub 2020 Mar 17.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Background: Ellis-van Creveld syndrome (EvCS) is a rare autosomal recessive skeletal dysplasia that is characterized by short stature, short limbs, short ribs, polydactyly and structural heart defect. Despite locus heterogeneity, in the majority of the cases, the disorder segregates with mutations in the EVC and EVC2 genes, notably mutations with truncating protein as a final sequence. In the present study, we report the prenatal findings and genetic analysis of a terminated pregnancy affected by severe thoracic and skeletal dysplasia. Read More

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http://dx.doi.org/10.1002/jgm.3175DOI Listing

[Hetero-digital toe flap according to the « spare-part » concept taken from a duplicated toe for the treatment of a cutaneous flessum of an associated clinodactyly].

Ann Chir Plast Esthet 2020 Jun 16;65(3):259-262. Epub 2020 Feb 16.

Chirurgie de la main, clinique du Parc Lyon, 155, boulevard Stalingrad 69006 Lyon, France. Electronic address:

Introduction: The correction of cutaneous deficiency encountered in clinodactyly is an important aspect of its treatment. The use of the skin lining of an adjacent duplicated toe as a « spare-part » flap may be of interest in providing good quality tissue.

Clinical Case: We report the case of a child with complete duplication of the 5th toe associated with clinodactyly. Read More

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http://dx.doi.org/10.1016/j.anplas.2020.01.003DOI Listing

Genetic heterogeneity of polydactyly in Maine Coon cats.

J Feline Med Surg 2020 Feb 18:1098612X20905061. Epub 2020 Feb 18.

NeuroMyoGène Institute, CNRS UMR5310, INSERM U1217, Faculty of Medicine, Rockefeller, Claude Bernard Lyon I University, Lyon, France.

Objectives: Polydactyly has been described in two breeds of domestic cats (Maine Coon and Pixie Bob) and in some outbred domestic cats (eg, Hemingway cats). In most cases, feline polydactyly is a non-syndromic preaxial polydactyly. Three variants located in a regulatory sequence involved in limb development, named ZRS (zone of polarising activity regulatory sequence), have been identified to be responsible for feline polydactyly. Read More

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http://dx.doi.org/10.1177/1098612X20905061DOI Listing
February 2020

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.

Sci Rep 2020 Feb 12;10(1):2501. Epub 2020 Feb 12.

Tsinghua-Peking Joint Center for Life Sciences, Beijing, China.

Twist1 encodes a basic helix-loop-helix transcription factor (TF), which forms homodimer or heterodimer with other TFs, like E2A, to regulate target genes' expression. Mutations in TWIST1 are associated with Saethre-Chotzen syndrome (SCS), a rare congenital disorder characterized with osteogenesis abnormalities. However, how dysfunction of TWIST1 leads to SCS is still largely unknown. Read More

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http://dx.doi.org/10.1038/s41598-020-59455-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016005PMC
February 2020

Preaxial hand polydactyly in association with lumbar hemivertebra.

BMJ Case Rep 2020 Feb 5;13(2). Epub 2020 Feb 5.

Radiology, University of Health Sciences Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1136/bcr-2019-233064DOI Listing
February 2020

Spontaneous Appearance and Transmission of Polydactyly in Dexter Cattle.

Case Rep Vet Med 2020 16;2020:6407847. Epub 2020 Jan 16.

Large Animal Clinical Sciences, College of Veterinary Medicine, University of Tennessee, Knoxville, TN 37996, USA.

A 3-yr-old Dexter cow and her yearling Dexter heifer calf exhibited polydactyly. Neither animal was linebred within 5 generations. This cow-calf pair represented the first reported occurrence of polydactyly in Dexter cattle in the US or abroad. Read More

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http://dx.doi.org/10.1155/2020/6407847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6985930PMC
January 2020

A rare case of thumb polydactyly with metacarpophalangeal joint synostosis.

Case Reports Plast Surg Hand Surg 2019 15;6(1):121-124. Epub 2019 Apr 15.

Department of Orthopedics and Traumatology, Buergerspital Solothurn, Solothurn, Switzerland.

We report on a rare case of thumb polydactyly with metacarpophalangeal joint synostosis in a 14-year old otherwise healthy boy. Our case can only be classified in the Rotterdam classification, was treated with resection of the hypoplastic radial component and yielded a very satisfactory outcome with a stable thumb. Read More

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http://dx.doi.org/10.1080/23320885.2019.1596032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968632PMC