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https://www.readbyqxmd.com/read/29219953/specific-retinal-phenotype-in-early-iqcb1-related-disease
#1
A Vincent, A AlAli, H MacDonald, C VandenHoven, E Héon
PurposeTo describe the ocular and systemic phenotype in IQCB1-related disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed IQCB1-related disease underwent ophthalmological examination including best-corrected visual acuity (BCVA) measurement, fundus evaluation, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Systemic evaluation including abdominal ultrasound was performed in all cases.ResultsBCVA ranged from perception of light (Case-2; 1 year) to 20/125 (Case-1; 9 years)...
December 8, 2017: Eye
https://www.readbyqxmd.com/read/29204208/pallister-hall-syndrome
#2
Sadanandvalli Retnaswami Chandra, Mane Maheshkumar Daryappa, M A Mukheem Mudabbir, M Pooja, A Arivazhagan
Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister-Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29198073/apert-syndrome-magnetic-resonance-imaging-mri-of-associated-intracranial-anomalies
#3
REVIEW
Ai Peng Tan, Kshitij Mankad
INTRODUCTION: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome...
December 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29159873/orthopaedic-manifestations-within-the-22q11-2-deletion-syndrome-a-systematic-review
#4
Jelle F Homans, Isabel N Tromp, Dino Colo, Tom P C Schlösser, Moyo C Kruyt, Vincent F X Deeney, Terrence B Crowley, Donna M McDonald-McGinn, René M Castelein
The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. 22q11.2DS is known to have wide phenotypic variability, including orthopaedic manifestations. The purpose of this systematic review is to increase the awareness of orthopaedic manifestations associated with 22q11.2DS. This systematic review was performed according to the PRISMA Guidelines. Original epidemiological studies on the prevalence of orthopaedic manifestations within 22q11...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29140732/a-rare-form-of-ankyloblepharon-filiforme-adnatum-associated-with-the-hay-wells-syndrome-and-a-c-1709t-c-mutation-on-the-tp63-gene
#5
Michal Koubek, Kristýna Strakošová, Juraj Timkovič, Dagmar Grečmalová, Aneta Orlíková, Hana Burčková, Hana Wiedermannová, Petr Mašek
INTRODUCTION: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. CASE DESCRIPTION: A girl delivered in the 34th week of gestation from a physiological pregnancy was born with extensive burn-like skin defects, ankyloblepharon filiforme adnatum, palate cleft, onychodystrophy of all limbs and syndactyly of toes...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29120500/oral-healthcare-in-fraser-syndrome
#6
Y Hassona, H Kharoub, C Scully
Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive defects. In this report, we describe the oral/dental findings in a 22-year-old girl with Fraser syndrome, and discuss the dental management.
November 9, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/29103889/minimally-invasive-hallux-interphalangeal-joint-arthrodesis-for-hallux-varus-in-pfeiffer-syndrome-a-case-report
#7
Miguel Flora, Pedro Diniz, Ana Luisa Neto, Nelson Teixeira, Paulo Carvalho, Francisco Guerra Pinto
Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability...
November 3, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29058245/ocular-findings-in-a-patient-with-oculofaciocardiodental-ofcd-syndrome-and-a-novel-bcor-pathogenic-variant
#8
Yujia Zhou, Antonina Wojcik, Victoria R Sanders, Bahram Rahmani, Sudhi P Kurup
PURPOSE: To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms. METHODS: A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES). RESULTS: The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity...
October 22, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29053644/dental-approach-for-apert-syndrome-in-children-a-systematic-review
#9
A-S López-Estudillo, M-A Rosales-Bérber, S Ruiz-Rodríguez, A Pozos-Guillén, M-Á Noyola-Frías, A Garrocho-Rangel
BACKGROUND: Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS...
November 1, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome-bws
#10
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al., 2014; Rivière et al...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#11
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28988429/homozygous-indel-mutation-in-cdh11-as-the-probable-cause-of-elsahy-waters-syndrome
#12
Ekim Z Taskiran, Beren Karaosmanoglu, Can Koşukcu, Özlem A Doğan, Hande Taylan-Şekeroğlu, Pelin Ö Şimşek-Kiper, Eda G Utine, Koray Boduroğlu, Mehmet Alikaşifoğlu
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of 2nd and 3rd fingers, history of impacted teeth with dentigerous cyst in the elder one, and intellectual disability (mild and borderline)...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884880/a-novel-missense-variant-in-the-gli3-zinc-finger-domain-in-a-family-with-digital-anomalies
#13
J Aaron Crapster, Louanne Hudgins, James K Chen, Natalia Gomez-Ospina
Mutations in GLI3, which encodes a transcription factor of the Hedgehog signaling pathway, cause several developmental anomalies linked to inappropriate tissue patterning. Here, we report a novel missense variant in the fifth zinc finger domain of GLI3 (c.1826G>A; p.(Cys609Tyr)) initially identified in a proband with preaxial polydactyly type IV, developmental delay, sensorineural hearing loss, skeletal, and genitourinary anomalies. Additional family members exhibited various digital anomalies such as preaxial polydactyly, syndactyly, and postaxial polydactyly either in isolation or combined...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28875142/van-der-woude-syndrome-presenting-as-a-single-median-lower-lip-pit-with-associated-dental-orofacial-and-limb-deformities-a-rare-case-report
#14
Sunil Richardson, Rakshit Vijay Khandeparker
Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot...
August 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28846100/composition-and-dosage-of-a-multipartite-enhancer-cluster-control-developmental-expression-of-ihh-indian-hedgehog
#15
Anja J Will, Giulia Cova, Marco Osterwalder, Wing-Lee Chan, Lars Wittler, Norbert Brieske, Verena Heinrich, Jean-Pierre de Villartay, Martin Vingron, Eva Klopocki, Axel Visel, Darío G Lupiáñez, Stefan Mundlos
Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosynostosis and synpolydactyly. We show through transgenic reporter and genome-editing studies in mice that Ihh is regulated by a constellation of at least nine enhancers with individual tissue specificities in the digit anlagen, growth plates, skull sutures and fingertips...
October 2017: Nature Genetics
https://www.readbyqxmd.com/read/28811814/apert-syndrome-report-of-a-rare-congenital-malformation
#16
Ehsan Rathore, Altaf Hussain Rathore
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28807869/a-novel-mutation-in-smoc1-and-variable-phenotypic-expression-in-two-patients-with-waardenburg-anophthalmia-syndrome
#17
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794915/occurrence-of-synpolydactyly-and-omphalocele-in-a-fetus-with-a-hoxd13-mutation
#18
Periyasamy Radhakrishnan, Shalini S Nayak, Muralidhar V Pai, Anju Shukla, Katta M Girisha
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28748361/case-report-of-a-novel-nonsyndromic-unilateral-syndactyly-of-the-hand
#19
Julius Matthias Weinrich, Waleed Ajabnoor, Peter Bannas
Syndactyly is a cutaneous and/or bony digital malformation with possible webbing of adjacent fingers or toes and uni- or bilateral occurrence. We report an 84-year old woman with a novel non-syndromic congenital malformation of her left hand. Clinical examination showed that she only had four digits. Radiograph of the hand revealed synostosis of the second and third proximal phalanx, resulting in a triangular shaped bone with relatively normal articulations at both ends. The phalangeal base of the fused finger tapers distally and is broader than the middle phalangeal bases of the ring and little finger...
December 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28746226/the-use-of-a-dorsal-double-wing-flap-without-skin-grafts-for-congenital-syndactyly-treatment-a-strobe-compliant-study
#20
Yanzhao Dong, Yisheng Wang
Numerous techniques have been developed that use various flaps to treat syndactyly. Skin grafts have often been used to cover remaining surgical defects. The long-term aim of surgery is to find new methods of separating the digits without using skin grafts. This paper describes a new surgical technique for the correction of simple, incomplete, and complete syndactyly. The technique consists of a dorsal double-wing flap to cover the newly created web space and zigzag incisions in the fingers, thus avoiding the use of skin grafts in this space...
July 2017: Medicine (Baltimore)
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