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Craniofacial dysplasia

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https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#1
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29109141/teaching-neuroimages-craniofacial-fibrous-dysplasia-loss-of-vision-after-head-trauma
#2
Fikret Sarihan, Kristel M Kasius
No abstract text is available yet for this article.
November 7, 2017: Neurology
https://www.readbyqxmd.com/read/29071510/heritable-skeletal-disorders-arising-from-defects-in-processing-and-transport-of-type-i-procollagen-from-the-er-perspectives-on-possible-therapeutic-approaches
#3
Meritxell B Cutrona, Niamh E Morgan, Jeremy C Simpson
Rare bone disorders are a heterogeneous group of diseases, initially associated with mutations in type I procollagen (PC) genes. Recent developments from dissection at the molecular and cellular level have expanded the list of disease-causing proteins, revealing that disruption of the machinery that handles protein secretion can lead to failure in PC secretion and in several cases result in skeletal dysplasia. In parallel, cell-based in vitro studies of PC trafficking pathways offer clues to the identification of new disease candidate genes...
October 26, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29056330/craniometaphyseal-dysplasia-mutations-in-ankh-negatively-affect-human-induced-pluripotent-stem-cell-differentiation-into-osteoclasts
#4
I-Ping Chen, Raj Luxmi, Jitendra Kanaujiya, Zhifang Hao, Ernst J Reichenberger
We identified osteoclast defects in craniometaphyseal dysplasia (CMD) using an easy-to-use protocol for differentiating osteoclasts from human induced pluripotent stem cells (hiPSCs). CMD is a rare genetic bone disorder, characterized by life-long progressive thickening of craniofacial bones and abnormal shape of long bones. hiPSCs from CMD patients with an in-frame deletion of Phe377 or Ser375 in ANKH are more refractory to in vitro osteoclast differentiation than control hiPSCs. To exclude differentiation effects due to genetic variability, we generated isogenic hiPSCs, which have identical genetic background except for the ANKH mutation...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29022055/illness-perceptions-are-associated-with-quality-of-life-in-patients-with-fibrous-dysplasia
#5
B C J Majoor, C D Andela, C R Quispel, M Rotman, P D S Dijkstra, N A T Hamdy, A A Kaptein, N M Appelman-Dijkstra
Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Ninety-seven out of 138 eligible patients from the LUMC FD cohort completed the Illness Perception Questionnaire-Revised (IPQ-R) and the Short Form-36 (SF-36)...
October 11, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#6
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/28966816/natural-history-of-cranial-fibrous-dysplasia-revealed-during-long-term-follow-up-case-report-and-literature-review
#7
David L Penn, Richard J Tartarini, Carolyn H Glass, Umberto De Girolami, Amir A Zamani, Ian F Dunn
BACKGROUND: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. One of the more common locations of FD occurrence is the craniofacial region. Treatment of asymptomatic FD often involves conservative management with serial imaging...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28950687/oculodentodigital-dysplasia-presenting-as-spastic-paraparesis-the-first-genetically-confirmed-korean-case-and-a-literature-review
#8
Kye Won Park, Ho-Sung Ryu, Juyeon Kim, Sun Ju Chung
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature...
September 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#9
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28930929/avoidance-of-tracheostomy-using-mandibular-distraction-in-an-infant-with-severe-condylar-dysplasia-and-airway-obstruction
#10
Anthony J Archual, Jonathan S Black
Craniofacial microsomia (CFM) is a common craniofacial anomaly characterized by asymmetric malformation of the mandible, ear, and other structures including the upper airway. The degree of mandibular hypoplasia is classified using a scheme developed by Pruzansky and modified by Kaban. Severe condylar dysplasia is the hallmark of Pruzansky-Kaban types IIB and III. Distraction osteogenesis has emerged as a treatment modality for mandibular hypoplasia in this setting for the treatment of asymmetry and airway obstruction...
November 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28889021/maxillary-sinuses-and-midface-in-patients-with-cleidocranial-dysostosis
#11
Tomasz Kulczyk, Agnieszka Przystańska, Artur Rewekant, Renata Turska-Malińska, Agata Czajka-Jakubowska
The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Files of four children with cleidocranial dysplasia were investigated. Volume of every maxillary sinus as well as two dimensional measurements of distances between particular points of interest located on surface of maxilla were calculated from reconstructed CBCT examination...
September 6, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28840064/polyostotic-craniofacial-fibrous-dysplasia-with-bizarre-radiologic-finding-mandible-anterior-skull-base-frontal-temporal-parietal-and-occipital-bones-involvement
#12
Alireza Tabibkhooei, Morteza Taheri, Sadra Rohani, Alireza Azimi
No abstract text is available yet for this article.
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28839487/computed-tomography-in-craniofacial-fibrous-dysplasia-a-case-series-with-review-of-literature-and-classification-update
#13
REVIEW
Deepak Gupta, Preeti Garg, Amit Mittal
INTRODUCTION: Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla...
2017: Open Dentistry Journal
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#14
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28783116/teratogenic-effects-of-topiramate-in-a-zebrafish-model
#15
Yu-Heng Lai, Yu-Ju Ding, David Moses, Yau-Hung Chen
Topiramate is commonly used for treating epilepsy in both children and adults. Recent clinical data suggests that administration of topiramate to women during pregnancy increases the risk of oral clefts in their offspring. To better understand the potential effects of topiramate, we dosed adult female zebrafish with topiramate, and investigated the altered morphologies in adult females and their offspring. It showed that topiramate-treated female fish had reduced oocyte maturation, and the survival rates of their offspring were seriously decreased during embryogenesis...
August 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#16
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28738834/the-value-of-99m-tc-methylene-diphosphonate-single-photon-emission-computed-tomography-computed-tomography-in-diagnosis-of-fibrous-dysplasia
#17
Linqi Zhang, Qiao He, Wei Li, Rusen Zhang
BACKGROUND: Fibrous dysplasia (FD) is a rare benign bone disorder in which the normal bone is replaced by immature fibro-osseous tissue. However, some case reports have reported that FD showed significantly increased (99m)Tc-methylene diphosphonate ((99m)Tc-MDP) uptake on whole-body bone scintigraphy (WBS), which may mimic bone metastasis or skeletal involvement of the patients with known cancer. Thus, the purpose of present study is to observe the reliable characteristics and usefulness of single photon emission computed tomography/computed tomography (SPECT/CT) for the diagnosis of FD...
July 24, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28706789/craniometaphyseal-dysplasia-a-review-and-novel-oral-manifestation
#18
K Martin, S Nathwani, R Bunyan
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans...
May 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#19
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#20
Sze Choong Wong, Margaret Zacharin
CONTEXT: McCune-Albright syndrome (MAS) is associated with numerous health problems. Comprehensive long-term health problems of adults with MAS are less well defined in the literature. OBJECTIVE: Our objective is to report comprehensive health outcomes of adults with MAS (>18 years). DESIGN: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range). RESULTS: The study included 16 adults (seven males) with MAS...
November 2017: Clinical Endocrinology
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