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Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium.

Commun Biol 2021 Jun 7;4(1):692. Epub 2021 Jun 7.

Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Research on human nail tissue has been limited by the restricted access to fresh specimen. Here, we studied transcriptome profiles of human nail units using polydactyly specimens. Single-cell RNAseq with 11,541 cells from 4 extra digits revealed nail-specific mesenchymal and epithelial cell populations, characterized by RSPO4 (major gene in congenital anonychia) and SPINK6, respectively. Read More

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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.

Genet Test Mol Biomarkers 2021 Jun 4. Epub 2021 Jun 4.

Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.

Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In this study, two fetuses diagnosed as having MKS in the prenatal period were evaluated on the basis of ultrasonographic findings, postmortem autopsy findings, and molecular genetic analyses. Read More

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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Am J Med Genet A 2021 Jun 4. Epub 2021 Jun 4.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2-CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part of the protein have been identified as pathogenic causes of brain overgrowth (megalencephaly, MEG) and severe cortical malformations in children including the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. Megalencephaly-associated CCND2 variants are localized to the terminal exon and result in accumulation of degradation-resistant protein. Read More

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Maternal periconceptional folic acid supplements use and fetus risk for limb defects.

Paediatr Perinat Epidemiol 2021 May 31. Epub 2021 May 31.

Institute of Reproductive and Child Health, Peking University/ National Health Commission Key Laboratory, Peking University, Beijing, China.

Background: Associations between the periconceptional folic acid only (FAO) or multiple micronutrients containing folic acid (MMFA) supplementation and risk for limb defects are inconsistent.

Objective: To explore the association between periconceptional folic acid supplements use and risk for limb defects, including clubfoot, polydactyly, syndactyly, and limb deficiencies.

Methods: Data were derived from a cohort based on a pregnancy registry in a district of Beijing, China, from 2013 to 2018. Read More

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An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.

Am J Med Genet A 2021 May 26. Epub 2021 May 26.

Department of Pathology, College of Medicine and Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.

Ellis-van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and cardiac anomalies. We report intrafamilial phenotypic variability in three new EvC syndrome cases. Affected males in this study showed only ectodermal abnormalities, whereas an affected female showed the classical presentation of EvC Syndrome, including bilateral postaxial polydactyly of hands and feet, and congenital heart defects. Read More

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Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.

Genomics 2021 May 20;113(4):2495-2502. Epub 2021 May 20.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Polydactyly or hexadactyly is characterized by an extra digit/toe with or without a bone. Currently, variants in ten genes have been implicated in the non-syndromic form of polydactyly. DNA from a single affected individual having bilateral postaxial polydactyly was subjected to whole exome sequencing (WES), followed by Sanger sequencing. Read More

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Surgical Procedures Based on the Arthrographic Findings of the Fifth MTP Joint With Proximal Phalanx Duplication in Postaxial Polydactyly of the Foot.

J Foot Ankle Surg 2021 Apr 20. Epub 2021 Apr 20.

Department of Orthopaedic Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan.

Radiographic findings in several atypical cases of postaxial polydactyly of the foot do not provide sufficient information to assess the cartilaginous structures or duplicated digit connections at the MTP joint. The purpose of this study was to demonstrate the surgical procedures using arthrography for the cartilaginous structures of the MTP joint in postaxial polydactyly of the foot. We performed arthrography in 7 feet of 7 patients with postaxial polydactyly of the foot in which duplication of the proximal phalanx was observed at the fifth MTP joint on the basis of radiographic evaluation. Read More

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Aortic quadfurcation with persistent left sciatic artery: an extremely rare anatomic variant in a 3-year-old boy.

J Vasc Surg Cases Innov Tech 2021 Jun 28;7(2):262-265. Epub 2021 Jan 28.

Interventional Radiology Service, Children's National Hospital, Washington, D.C.

Reports of aortoiliac variant anatomy are rare, especially in the pediatric population. A 3-year-old male patient with hypertension and left foot polydactyly with syndactyly was referred to our interventional radiology service for evaluation of a possible renovascular cause of the hypertension. Angiograms revealed an extremely rare anatomic variant consisting of the absence of the common iliac arteries bilaterally, resulting from quadfurcation of the abdominal aorta into the bilateral internal and external iliac arteries. Read More

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Lower extremity postaxial polydactyly: Current literature status and future avenues.

J Plast Reconstr Aesthet Surg 2021 Apr 18. Epub 2021 Apr 18.

Division of Plastic and Reconstructive Surgery, McGill University Health Center, Montreal, Canada.

Background: Despite lower extremity polydactyly (LEP) representing the most common congenital foot anomaly with functional and psychosocial implications, the literature is devoid of comprehensive, synthesizing reviews. The purpose of the current review is to identify an evidence-based approach to guide clinical management and shed light on reported functional and esthetic outcomes for postaxial polydactyly.

Methods: A scoping systematic review of primary clinical studies was performed. Read More

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The association between ambient air pollution and birth defects in five major ethnic groups in Liuzhou, China.

BMC Pediatr 2021 05 14;21(1):232. Epub 2021 May 14.

Department of Population and Quantitative Health Sciences, Albert Sherman Center, University of Massachusetts Medical School, 368 Plantation Street, Worcester, MA, 01605, USA.

Background: Studies suggest that exposure to ambient air pollution during pregnancy may be associated with increased risks of birth defects (BDs), but conclusions have been inconsistent. This study describes the ethnic distribution of major BDs and examines the relationship between air pollution and BDs among different ethnic groups in Liuzhou city, China.

Methods: Surveillance data of infants born in 114 registered hospitals in Liuzhou in 2019 were analyzed to determine the epidemiology of BDs across five major ethnic groups. Read More

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Genetic and congenital disorders in pre-Hispanic Moche pottery.

Am J Med Genet C Semin Med Genet 2021 Jun 13;187(2):269-277. Epub 2021 May 13.

Archeological Museum Julio César Cubillos, Archeodiversity Research, Universidad del Valle, Cali, Colombia.

The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces from 5 museums, which seem to show individuals with malformations, minor anomalies, and possible genetic syndromes. Possible diagnoses include cleft lip and palate, ocular anomalies such as hypertelorism and orbital dystopia, oligo- and polydactyly, conjoined twinning, clubfoot, Down syndrome, Crouzon syndrome, and Seckel syndrome. Read More

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Limb body wall complex complicating a dichorionic diamniotic twin pregnancy: MRI for demonstration of fetal morphology.

BMJ Case Rep 2021 May 12;14(5). Epub 2021 May 12.

Department of Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, Pondicherry, India.

Limb body wall complex (LBWC) is a rare, lethal malformation characterised by body wall defects, craniofacial and limb anomalies with or without various other organ anomalies. We report a case of dichorionic diamniotic twin pregnancy discordant for LBWC, diagnosed by ultrasound (US) and confirmed by MRI at 21 weeks' gestation, managed expectantly and delivered at 35 weeks by emergency caesarean section with a favourable outcome of the unaffected twin. The anomalous twin, who died soon after birth, had a sizeable thoracoabdominal wall defect, eviscerated liver and bowel loops attached to the placenta, short cord, ectopia cordis, lung hypoplasia, kyphoscoliosis, right upper limb amelia and left clubfoot with polydactyly. Read More

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The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

AJNR Am J Neuroradiol 2021 May 6. Epub 2021 May 6.

Department of Pediatric Radiology and Neuroradiology (A.R.), Vittore Buzzi Children's Hospital, Milan, Italy.

Background And Purpose: Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study. Read More

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Ellis-van Creveld syndrome novel pathogenic variant in the gene a patient from Turkey.

Clin Case Rep 2021 Apr 14;9(4):1973-1976. Epub 2021 Feb 14.

Department of Medical Genetics Medical School of Adiyaman University Adiyaman Turkey.

Ellis-van Creveld syndrome 10-year-old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the gene in patient. Read More

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Characterization of the Onychomatricodermis Containing Onychofibroblasts of the Nail Unit : Histology, Immunohistochemistry, and Electron Microscopic Study.

Ann Dermatol 2021 Apr 8;33(2):108-115. Epub 2021 Mar 8.

Department of Orthopedic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Background: We recently discovered the presence of specialized nail mesenchyme below the nail matrix and designated it as onychomatricodermis.

Objective: We did further research to characterize the histologic, histochemical, immunohistochemical and ultrastructural features of the onychomatricodermis containing onychofibroblasts in the nail unit.

Methods: Ten polydactyly nail unit specimens and 8 nail matrix biopsies were included. Read More

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Hepatic Transcriptome Profiling Reveals Lack of Expression in Polydactylous Rats with High-Fat Diet-Induced Hypertriglyceridemia and Visceral Fat Accumulation.

Nutrients 2021 Apr 25;13(5). Epub 2021 Apr 25.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, 128 00 Prague, Czech Republic.

Metabolic syndrome (MetS) is an important cause of worldwide morbidity and mortality. Its complex pathogenesis includes, on the one hand, sedentary lifestyle and high caloric intake, and, on the other hand, there is a clear genetic predisposition. PD (Polydactylous rat) is an animal model of hypertriglyceridemia, insulin resistance, and obesity. Read More

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Suture osteosynthesis in the bony reconstruction of thumb duplication.

J Hand Surg Eur Vol 2021 Apr 22:17531934211010078. Epub 2021 Apr 22.

Department of Orthopaedic Surgery, KK Women's and Children's Hospital, Singapore, Republic of Singapore.

Metacarpal osteotomies are done to correct deviation deformity in thumb duplication. We describe a suture-only technique of metacarpal osteosynthesis, without using K-wires. Thirteen Flatt Type IV thumbs and five Wassel Type VII thumbs were reconstructed with this technique. Read More

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Longitudinal Epiphyseal Bracket as an Overlooked Etiology of Congenital-Residual Hallux Varus: A Case Report.

J Am Podiatr Med Assoc 2021 Mar;111(2)

Longitudinal epiphyseal bracket is a rare ossification disorder of the short tubular bones. The affected bone becomes deformed as a result of the bracket. The normal growth pattern cannot occur, and when it affects the first metatarsal bone, hallux varus may develop with the abnormal growth pattern. Read More

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A radial polydactyly classification system used for surgical planning.

J Hand Surg Eur Vol 2021 May;46(4):447-449

Department of Hand and Foot Surgery, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.

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Association of Gestational Opioid Exposure and Risk of Major and Minor Congenital Malformations.

JAMA Netw Open 2021 Apr 1;4(4):e215708. Epub 2021 Apr 1.

Department of Neurology, Stanford University, Palo Alto, California.

Importance: The rapid increase of opioid-related overdoses and deaths has become a public health concern in the US. Use of prescription opioids in pregnant women has increased; results from teratogenicity studies remain controversial.

Objective: To evaluate the association between maternal prescription opioid use (excluding opioid use disorders) during pregnancy and the incidence of congenital malformations. Read More

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Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel variants.

Mol Med Rep 2021 Jun 13;23(6). Epub 2021 Apr 13.

Department of Gynecology and Obstetrics, Key Laboratory of Maternal‑Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R. China.

Short rib‑polydactyly syndrome type III (SRPS3) is a lethal perinatal skeletal disorder consisting of polydactyly and multi‑system organ abnormalities. To further assess the pathogenicity of two pairs of compound heterozygotes and to search for novel molecular etiology, X‑rays and hematoxylin and eosin staining were conducted in three cases: Two retrospective samples and a newly identified patient with SRPS3. In addition, next‑generation sequencing was used to evaluate a fetus with SRPS3. Read More

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Development of Injectable Polydactyly-Derived Chondrocyte Sheets.

Int J Mol Sci 2021 Mar 21;22(6). Epub 2021 Mar 21.

Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.

We are conducting a clinical study of the use of allogeneic polydactyly-derived chondrocyte sheets (PD sheets) for the repair of articular cartilage damage caused by osteoarthritis. However, the transplantation of PD sheets requires highly invasive surgery. To establish a less invasive treatment, we are currently developing injectable fragments of PD sheets (PD sheets-mini). Read More

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Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.

Eur J Med Genet 2021 Jun 30;64(6):104212. Epub 2021 Mar 30.

Departments of Gynecology and Obstetrics, The Sixth Medical Center of PLA General Hospital, Beijing, 100048, China.

Backgroud: Joubert syndrome is a rare neurodevelopmental disorder characterized by clinical and genetic heterogeneity. The characteristic molar tooth sign, which resulted from cerebellar vermis hypoplasia and midbrain anomalies, is expected to be the key diagnostic feature for this disease. However, it is not easy to make a definite diagnosis in prenatal only based on the imageology due to its clinical heterogeneity. Read More

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

HGG Adv 2021 Jan 21;2(1). Epub 2020 Nov 21.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Read More

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January 2021

A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly.

Am J Med Genet A 2021 Mar 31. Epub 2021 Mar 31.

Department of Medical Genetics, Antalya Training and Research Hospital, Antalya, Turkey.

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Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level.

J Community Genet 2021 Mar 31. Epub 2021 Mar 31.

National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Health Laboratories and Institutes, National Ministry of Health, Buenos Aires, Argentina.

Birth prevalence of congenital anomalies (CA) in Argentina is estimated around 1.7%. CA are the second leading cause of infant mortality. Read More

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Limited surface examination to evaluate potential teratogens in a resource-limited setting.

Birth Defects Res 2021 May 28;113(9):702-707. Epub 2021 Mar 28.

Division of Infectious Diseases, Beth Israel Deaconess Medical Center, Boston, MA, USA.

Background: To determine the frequency of malformations that would be identified in the limited surface examination of a newborn by the delivering nurse midwife in a resource-limited setting.

Methods: The limited surface examination will identify visible external anomalies, but not abnormalities inside the mouth, most heart defects, undescended testes, inguinal hernias, hip dysplasia, peripheral vascular anomalies, and some internal anomalies. The findings in a malformations surveillance program, involving 289,365 births in Boston, have been used to establish the prevalence rate of malformations that would be identified and not identified. Read More

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Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.

Mol Syndromol 2021 Mar 15;12(1):41-45. Epub 2020 Dec 15.

INGEMM-Institute of Medical and Molecular Genetics, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.

Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the () gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. Read More

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A Frameshift Variant in Causes Postaxial Polydactyly.

Mol Syndromol 2021 Mar 3;12(1):20-24. Epub 2020 Dec 3.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Postaxial polydactyly (PAP) is characterized by counterproductive 5th digit (pinky finger) duplication on hands and/or feet which often leads to functional complications. To date, at least 11 genes involved in causing various types of nonsyndromic polydactylies have been reported. In the present study, a consanguineous family of Sindhi origin with a segregating nonsyndromic form of PAP in an autosomal recessive manner was clinically and genetically evaluated. Read More

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Bardet-Biedl Syndrome in an Ethiopian.

Int Med Case Rep J 2021 19;14:177-181. Epub 2021 Mar 19.

Department of Ophthalmology, Faculty of Medicine, Addis Ababa University, Addis Ababa, Ethiopia.

Bardet-Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardation, and hypogonadism. Renal failure is known to be the main cause of death in patients with BBS. Read More

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