keyword
MENU ▼
Read by QxMD icon Read
search

Syndactyly

keyword
https://www.readbyqxmd.com/read/29668474/craniosynostosis-acrocephalosyndactyly-apert-syndrome-diagnosed-in-a-newborn
#1
Orhideja Stomnaroska, Dragan Danilovski, Sanja Ivanovska
We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29624436/amniotic-band-syndrome-a-multidisciplinary-care-approach-to-the-treatment-of-a-rare-case
#2
Padma M Mukherjee, Marianella Natera, Howard Drew, Adriana Creanga
Amniotic band syndrome (ABS) is a rare developmental disorder associated with defects such as syndactyly, facial and/or palatal clefts, and dental anomalies like malformed or impacted teeth. In this report, a patient with ABS was successfully treated with orthodontic, endodontic, and periodontal therapies. Cone beam computed tomography revealed a unique eruptive path of the impacted central incisor through the incisive canal and cleft area. The tooth was occlusally and functionally stable after 1 year of treatment...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29621304/trends-in-congenital-anomalies-in-europe-from-1980-to-2012
#3
Joan K Morris, Anna L Springett, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Jorieke E H Bergman, Melinda Csaky-Szunyogh, Carlos Dias, Elizabeth S Draper, Ester Garne, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Robert McDonnell, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Jennifer Kurinczuk, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Helen Dolk
BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing...
2018: PloS One
https://www.readbyqxmd.com/read/29605658/novel-mutations-in-the-ciliopathy-associated-gene-cplane1-c5orf42-cause-ofd-syndrome-type-vi-rather-than-joubert-syndrome
#4
Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, Alvin Yu Jin Ng, Sumanty Tohari, Kakaly Ghosh, Angeline Lai, Jiin Ying Lim, Ene Choo Tan, Louise Devisme, Morgane Stichelbout, Adila Alkindi, Nazreen Banu, Zafer Yüksel, Jamal Ghoumid, Nadia Elkhartoufi, Lucile Boutaud, Alessia Micalizzi, Maggie Siewyan Brett, Byrappa Venkatesh, Enza Maria Valente, Tania Attié-Bitach, Bruno Reversade, Ariana Kariminejad
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...
March 29, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29605356/autosomal-dominant-stapes-fixation-syndactyly-and-symphalangism-in-a-family-with-nog-mutation-long-term-follow-up-on-surgical-treatment
#5
Marie Westergaard-Nielsen, Tine Amstrup, Jens Højberg Wanscher, Klaus Brusgaard, Lilian Bomme Ousager
OBJECTIVE: Evaluation of clinical findings and audiological outcome after surgery in a Danish family with autosomal dominant facio-audio-symphalangism syndrome with stapes fixation, syndactyly and symphalangism. METHODS: Retrospective report on eight affected family members in a Danish family. Clinical investigation included X-ray, audiology and in one case video-recorded surgery. Main outcome measure was audiologic results after stapedectomy. Sanger DNA sequencing of NOG was performed on peripheral blood...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29573897/documenting-combined-congenital-upper-limb-anomalies-using-the-oberg-manske-and-tonkin-classification-implications-for-epidemiological-research-and-outcome-comparisons
#6
Martijn Baas, Pieter R Zwanenburg, Steven E R Hovius, Christianne A van Nieuwenhoven
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. However, subsequent epidemiological and validation studies using the OMT scheme commonly registered only the main anomaly per arm. This study illustrates both the deficits of single diagnosis documentation as well as the merits of registering every anomaly for epidemiological research, outcome comparison, and overall applicability of the classification...
March 21, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29524275/mutations-in-the-fourth-%C3%AE-propeller-domain-of-lrp4-are-associated-with-isolated-syndactyly-with-fusion-of-the-third-and-fourth-fingers
#7
Rivka Sukenik Halevy, Huan-Chieh Chien, Bo Heinz, Michael J Bamshad, Deborah A Nickerson, Martin Kircher, Nadav Ahituv
Isolated hand syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover two novel variants, chr11 g.46896373C>G; p.D1403H and chr11 g.46893078G>T; p.Q1564K, in LRP4 in a child with isolated bilateral syndactyly of the third and fourth fingers. Each variant was inherited from a different parent and neither parent was affected. Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly...
March 10, 2018: Human Mutation
https://www.readbyqxmd.com/read/29514872/homozygous-chst11-mutation-in-chondrodysplasia-brachydactyly-overriding-digits-clino-symphalangism-and-synpolydactyly
#8
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29509981/myosin-10-is-involved-in-murine-pigmentation
#9
Kifayathullah Liakath-Ali, Valerie E Vancollie, Inês Sequeira, Christopher J Lelliott, Fiona M Watt
Myosins are molecular motors that are well known for their role in cell movement and contractile functions. Although extensively studied in muscle physiology, little is known about the function of myosins in mammalian skin. As part of the Sanger Institute Mouse Genetic Project, we have identified a role for Myo10 in pigmentation, with a phenotype unlike those of Myo5a or Myo7a. Adult mice homozygous for a disrupted Myo10 allele on a C57BL/6N background displayed a high degree of penetrance for white patches on their abdomen and dorsal surface...
March 6, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29490900/limb-hypertrophy-a-skin-vascular-malformation-and-bilateral-hydroureteronephrosis-in-a-neonate
#10
Grazia Morandi, Claudia Piona, Daniela Degani, May Chebl El Hachem, Nicoletta Resta, Carmela Richelli, Silvana Lauriola
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). edpract;archdischild-2017-314021v1/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation...
February 28, 2018: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/29483804/two-patients-with-apert-syndrome-with-different-mutations-the-importance-of-early-diagnosis
#11
Esra Işık, Tahir Atik, Hüseyin Onay, Ferda Özkınay
Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 ( FGFR2 ) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority of cases of Apert syndrome. In this case report, two patients with Apert syndrome with two different FGFR2 gene mutations are presented. Case-1, a 4-month-old boy with craniosynostosis and syndactyly was referred to pediatric genetic clinic...
December 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29476210/a-child-with-apert-syndrome-and-sturge-weber-syndrome-could-fibronectin-or-the-ras-mapk-signaling-pathway-be-the-connection
#12
Ai Peng Tan, Wui Khean Chong
BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p...
February 23, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29456479/a-novel-missense-variant-in-the-pvrl4-gene-underlying-ectodermal-dysplasia-syndactyly-syndrome-in-a-turkish-child
#13
Leila Dardour, Katrien Cosyns, Koenraad Devriendt
Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in PVRL4 coding for nectin-4. Five different mutations in the PVRL4 gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29441430/prenatal-diagnosis-of-apert-syndrome-using-ultrasound-magnetic-resonance-imaging-and-three-dimensional-virtual-physical-models-three-case-series-and-literature-review
#14
Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior
OBJECTIVE: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models. METHODS: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data...
February 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29430627/a-novel-homozygous-missense-variant-in-nectin4-pvrl4-causing-ectodermal-dysplasia-cutaneous-syndactyly-syndrome
#15
Farooq Ahmad, Abdul Nasir, Holger Thiele, Muhammad Umair, Guntram Borck, Wasim Ahmad
Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4)...
February 12, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29427337/non-syndromic-bilateral-ulnar-aplasia-with-humero-radial-synostosis-and-oligo-ectro-dactyly
#16
Terri P McVeigh, Jonathan A Soye, Emma Gordon, Sally A Lynch
Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens...
February 10, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29390243/-bardet-biedl-syndrome-and-kidney-failure-a-case-report
#17
Fabio Tattoli, Daniela Falconi, Chiara Bottaro, Maurizio Gherzi, Federico Marazzi, Marita Marengo, Ilaria Serra, Michela Tamagnone, Marco Formica
Bardet-Biedl Syndrome (BBS) is a rare multi-systemic disease with autosomal recessive transmission. BBS was at first considered to be homogeneous as for its genetics, but subsequent studies have shown an extensive gene variability. Currently, 21 genes (BBS1-21) present on different chromosomes have been mapped: these genes are responsible for BBS phenotypes and they show a great heterogeneity of mutations.The most common genes are BBS1 (locus 11q13) and BBS10.We show here the case of a 50 year old patient with BBS...
February 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29377641/malformations-attributed-to-the-process-of-vascular-disruption
#18
Lewis B Holmes, Marie-Noel Westgate, Hanah Nasri, M Hassan Toufaily
BACKGROUND: Several malformations have been attributed to the process of vascular disruption. The central hypothesis for this etiology is that blood flow to a structure has been altered after that structure had formed normally. The decreased blood flow leads to hypoxia, endothelial cell damage, hemorrhage, tissue loss, and repair. After recovery, some structures are normal and others show either tissue loss or structural abnormalities, such as syndactyly and constriction rings. METHODS: The phenotypic features of the 7,020 infants with one or more malformations, who were born to women who had always planned to deliver at Brigham and Women's Hospital (BWH) between, 1972 and 2012, that is, maternal nontransfers, were reviewed...
January 2018: Birth defects research
https://www.readbyqxmd.com/read/29319351/amniotic-constriction-bands-secondary-deformities-and-their-treatments
#19
Benjamin T Drury, Ghazi M Rayan
BACKGROUND: The purpose of this study was to report the surgical treatment experience of patients with amniotic constriction bands (ACB) over a 35-year interval and detail consequential limb deformities with emphasis on hands and upper extremities, along with the nature and frequency of their surgical treatment methods. METHODS: Fifty-one patients were identified; 26 were males and 25 females. The total number of deformities was listed. The total number of operations, individual procedures, and operations plus procedures that were done for each patient and their frequency were recorded...
January 1, 2018: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#20
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
January 4, 2018: American Journal of Human Genetics
keyword
keyword
57572
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"