3,918 results match your criteria Supernumerary Digit

Retinal dystrophies: A look beyond the eyes.

Am J Ophthalmol Case Rep 2022 Sep 11;27:101613. Epub 2022 Jun 11.

Division of Genomic Medicine, MIND Institute, Department of Pediatrics, UC Davis Medical Center, 2825 50th Street, Sacramento, CA, 95817, USA.

Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease.

Observations: Detailed eye evaluations, including visual acuity, visual field, slit lamp examination, and indirect ophthalmoscopy were performed. Retinal imaging included fundus photography and spectral domain optical coherence tomography (SD-OCT). Read More

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September 2022

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.

Am J Med Genet A 2022 Jun 25. Epub 2022 Jun 25.

Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.

Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. Other manifestations can include polydactyly, accessory frenula, renal, or liver disease. Here, we report individuals meeting criteria for JS with de novo heterozygous variants in SLC30A7 (Chr1p21. Read More

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structural variants disrupting transcriptional regulation lead to craniofacial and limb malformations.

Genome Res 2022 Jun 16. Epub 2022 Jun 16.

Ben-Gurion University of the Negev;

Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also function as cis-regulatory elements remain largely uncharacterized. Here, we show that craniosynostosis patients with SVs containing the Histone deacetylase 9 (HDAC9) protein-coding sequence are associated with disruption of regulatory elements that reside within sequence. Read More

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Molecular basis underlying the ciliary defects caused by variations found in skeletal ciliopathies.

Mol Biol Cell 2022 Jun 15:mbcE22050188. Epub 2022 Jun 15.

Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan.

Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery, which contains the IFT-A and IFT-B complexes powered by the kinesin-2 and dynein-2 motors. Mutations in genes encoding subunits of the IFT-A and dynein-2 complexes cause skeletal ciliopathies. Some subunits of the IFT-B complex, including IFT52, IFT80, and IFT172, are also mutated in skeletal ciliopathies. Read More

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Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.

Pediatr Nephrol 2022 Jun 13. Epub 2022 Jun 13.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MT, USA.

Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, postaxial polydactyly, and cognitive impairment with considerable phenotypic heterogeneity. BBS results from biallelic pathogenic variants in over 20 genes that encode key proteins required for the assembly or primary ciliary functions of the BBSome, a heterooctameric protein complex critical for homeostasis of primary cilia. While variants in BBS1 are most frequently identified in affected individuals, the renal and pulmonary phenotypes associated with BBS1 variants are reportedly less severe than those seen in affected individuals with pathogenic variants in the other BBS-associated genes. Read More

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Case Report: Identification Pathogenic Abnormal Splicing of Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation.

Front Genet 2022 27;13:849562. Epub 2022 May 27.

Department of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Conventionally, protein features affected by missense mutation was attributed to destroy an important domain with amino acid alternation, and it was difficult to clearly specify the pathogenicity of a novel missense mutation. Nevertheless, the associations between missense mutations and abnormal splicing are nowadays increasingly reported. Rarely, some missense mutations, locating at the non-canonical splicing sites, are observed to damage the splicing process. Read More

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Six-Year Follow-Up of a Rare Bifid Talus and Eight-Toed Central Polydactyly: A Case Report.

Indian J Orthop 2022 Jun 29;56(6):1096-1100. Epub 2022 Mar 29.

Department of Radiology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.

Eight-toed central polydactyly is a rare congenital foot deformity and no other case with a bifid talus has been reported in the literature. We present a 6-year follow-up of a male child who had eight-toed central polydactyly with a duplicate cuneiform bone and bifid talus in his right foot. During preoperative planning, CT scans were conducted to evaluate the duplicate tarsals and to assist in reaching surgical decisions. Read More

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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

BMC Med Genomics 2022 Jun 6;15(1):126. Epub 2022 Jun 6.

Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.

Background: The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.

Case Presentation: This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12. Read More

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Parent Perspectives for Type B Ulnar Polydactyly Management.

Hand (N Y) 2022 Jun 5:15589447221096707. Epub 2022 Jun 5.

Indiana University School of Medicine, Indianapolis, USA.

Background: Type B ulnar polydactyly is one of the most commonly encountered congenital hand differences and can be treated with ligation or excision. The purpose of this study was to determine what factors families consider in selecting treatment for their child with type B ulnar polydactyly.

Methods: We reviewed treatment outcomes and administered a survey by telephone to parents of children with type B ulnar polydactyly treated at a pediatric hospital between 2015 and 2020. Read More

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ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics.

Front Pediatr 2022 16;10:797978. Epub 2022 May 16.

Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.

Preaxial polydactyly (PPD) is a common congenital abnormality with an incidence of 0.8-1.4% in Asians, characterized by the presence of extra digit(s) on the preaxial side of the hand or foot. Read More

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Novel Variant in Exon 3 of the Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly.

Case Rep Pediatr 2022 19;2022:8059409. Epub 2022 May 19.

Department of Pediatrics, Pediatric Unit, "Vittore Buzzi" Children's Hospital, Milan, Italy.

. Pituitary differentiation involves a large number of transcription factors. In particular, expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Read More

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Socioeconomic Disparities in Surgical Care for Congenital Hand Differences.

Hand (N Y) 2022 May 24:15589447221092059. Epub 2022 May 24.

Vanderbilt University Medical Center, Nashville, TN, USA.

Background: The purpose of this study was to evaluate the influence of socioeconomic factors on access to congenital hand surgery care, hospital admission charges, and analyze these geographic trends across regions of the country.

Methods: Retrospective cohort study was conducted of congenital hand surgery performed in the United States from 2010 through 2020 using the Pediatric Health Information System. Multivariate regression was used to analyze the impact of socioeconomic factors. Read More

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An Extremely Rare Case of Bonneau Syndrome with Novel Cardiac and Eye Manifestations.

Saudi J Med Med Sci 2022 May-Aug;10(2):166-169. Epub 2022 Apr 28.

Department of Pediatrics, Thumbay University Hospital, Ajman, UAE.

Bonneau or cardio-ducto-polysyndactyly syndrome is an extremely rare, life-threatening developmental defect, which has only been reported in eight patients previously. Here, we describe one such case of Bonneau syndrome in a newborn with additional novel manifestations. This late preterm (35 weeks of gestation) neonate born to parents of consanguineous marriage following a pregnancy complicated by polyhydramnios was symmetrically small for date at birth (<3 centile for weight, length, and occipitofrontal circumference). Read More

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Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome.

Clin Case Rep 2022 May 18;10(5):e05888. Epub 2022 May 18.

Faculty of Medicine Damascus University Damascus Syria.

Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7-year-old girl with Ellis-van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. Read More

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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Genet Med 2022 May 17. Epub 2022 May 17.

Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address:

Purpose: LEF1 encodes a transcription factor acting downstream of the WNT-β-catenin signaling pathway. It was recently suspected as a candidate for ectodermal dysplasia in 2 individuals carrying 4q35 microdeletions. We report on 12 individuals harboring LEF1 variants. Read More

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Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.

J Cell Mol Med 2022 Jun 18;26(11):3213-3222. Epub 2022 May 18.

Prenatal Diagnosis Center in Guizhou Province, The Affiliated Hospital of Guizhou Medical University, Guiyang, China.

Oral-facial-digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI. Read More

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Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Hum Genome Var 2022 May 17;9(1):15. Epub 2022 May 17.

Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.

Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127. Read More

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Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.

Front Genet 2022 28;13:878274. Epub 2022 Apr 28.

Department of Medical Laboratory Technology, National Skills University Islamabad, Islamabad, Pakistan.

Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment. DNA of a single affected individual was directly subjected to whole exome sequencing (WES), followed by Sanger sequencing. Read More

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Reoperation after primary operation for pre-axial polydactyly of the hand: A 12-year experience at a single institute.

J Plast Reconstr Aesthet Surg 2022 Apr 22. Epub 2022 Apr 22.

Department of Orthopedic Surgery, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea. Electronic address:

Background: This study aimed to evaluate and describe the rate, reasons, and detailed procedures of reoperations for pre-axial polydactyly of the hand at our institute conducted within 12 years.

Methods: We retrospectively reviewed the medical records and radiographs of 268 patients (292 digits) with pre-axial polydactyly of the hand, who were treated surgically at our institute from November 2006 to May 2018 and followed up for >12 months.

Results: Fifty-two thumbs of 47 patients underwent reoperations, yielding a 17. Read More

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A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.

Mol Genet Genomic Med 2022 May 12:e1968. Epub 2022 May 12.

Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.

Background: Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non-syndromic postaxial polydactyly (PAP).

Methods: After recruiting a three-generation family with PAP, whole-exome sequencing was performed to identify the causative variant. Read More

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Complex functional redundancy of Tbx2 and Tbx3 in mouse limb development.

Dev Dyn 2022 May 4. Epub 2022 May 4.

Department of Molecular and Functional Genomics, Weis Center for Research, Geisinger Clinic, Danville, Pennsylvania, USA.

The limb phenotypes of Tbx2 and Tbx3 mutants are distinct: loss of Tbx2 results in isolated duplication of digit 4 in the hindlimb while loss of Tbx3 results in anterior polydactyly and posterior oligodactly in the forelimb. In the face of such disparate phenotypes, we sought to determine whether Tbx2 and Tbx3 have functional redundancy during development of the mouse limb. We found that sequential loss of alleles generates defects that are not simply additive of those observed in single mutants and that multiple structures in both the forelimb and hindlimb display compound sensitivity to decreased gene dosage. Read More

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Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic mutations.

Zool Res 2022 05;43(3):442-456

Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.

Mutations in serologically defined colon cancer autoantigen protein 8 ( ) were first identified in retinal ciliopathy families a decade ago with unknown function. To investigate the pathogenesis of SDCCAG8-associated retinal ciliopathies , we employed CRISPR/Cas9-mediated homology-directed recombination (HDR) to generate two knock-in mouse models, and , which carry truncating mutations of the mouse , corresponding to mutations that cause Bardet-Biedl syndrome (BBS) and Senior-Løken syndrome (SLS) (c.696T>G p. Read More

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Web Exclusive. Annals Story Slam - Papa Is on a Ventilator.

Ann Intern Med 2022 06 29;175(6):SS1. Epub 2022 Apr 29.

Universidad Nacional Mayor de San Marcos, Lima, Peru (A.A.).

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Bardet-Biedl syndrome: a case series.

J Med Case Rep 2022 Apr 29;16(1):169. Epub 2022 Apr 29.

Gezira Hospital for Renal Disease and Surgery, Wad Medani, Sudan.

Background: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Read More

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Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

Childs Nerv Syst 2022 Apr 27. Epub 2022 Apr 27.

Institut de Biologie Paris Seine (IBPS) - Developmental Biology Laboratory, UMR 7622 CNRS, INSERM ERL 1156, Sorbonne Université 9 quai Saint-Bernard, 75005, Paris, France.

Introduction: Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger.

Case Report: A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). Read More

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A modified Bilhaut-Cloquet procedure for thumb duplication: Reconstruction of functionality and appearance.

Bo He Guoxin Nan

J Plast Reconstr Aesthet Surg 2022 Feb 26. Epub 2022 Feb 26.

Department of Orthopaedics, Children's Hospital of Chongqing Medical University, Yuzhong District Zhongshan 2 road 136#, Chongqing 400014, China. Electronic address:

Background: The Bilhaut-Cloquet technique is the preferred surgical method for thumb polydactyly with symmetrical caliber and osseous components. However, the traditional Bilhaut-Cloquet technique has many esthetic and functional complications. In this study, we aimed to investigate an effective modified Bilhaut-Cloquet procedure for Wassel type IV thumb duplication. Read More

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February 2022

Pregnancy outcomes of women with multiple sclerosis treated with ocrelizumab in Canada: A descriptive analysis of real-world data.

Mult Scler Relat Disord 2022 Jun 6;62:103792. Epub 2022 Apr 6.

University of British Columbia, Vancouver, British Columbia, Canada.

Objectives: To report and describe the real-world use of ocrelizumab in women with multiple sclerosis (MS) in Canada before and/or during pregnancy as well as their fetal outcomes.

Methods: We identified retrospective and prospective Canadian pregnancy exposure cases from the Roche Global Safety Database from November 5, 2008 until March 31, 2021, and linked these cases to information within the Canadian Roche Patient Support Program (COMPASS). The analysis only included spontaneous reports or those from a non-interventional program. Read More

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Strigea robusta (Digenea: Strigeidae) infection effects on the gonadal structure and limb malformation in toad early development.

J Exp Zool A Ecol Integr Physiol 2022 Jul 22;337(6):675-686. Epub 2022 Apr 22.

Institute of Cytology, Russian Academy of Sciences, St. Petersburg, Russia.

The anomaly P is a mass morphological anomaly reported in some water frog populations across Europe. It was found that polydactyly is only a mild attenuated form of heavy cases of the anomaly P syndrome, which have strong deformations of the hindlimbs and, partly, forelimbs. It was shown that the anomaly P is caused by the trematode Strigea robusta and this syndrome can be considered as a special case of strigeosis in amphibians. Read More

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