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craniofacial malformation

Kristen S Pan, John D Heiss, Sydney M Brown, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is a mosaic disorder of benign fibro-osseous lesions, which may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Cranial base abnormalities, including Chiari I malformation (CM1), in which the cerebellum extends below the foramen magnum, and secondary basilar invagination (BI), in which the odontoid prolapses into the posterior cranial fossa, are potentially serious complications of metabolic bone disorders. The purpose of this study was to determine the prevalence, natural history, and risk factors for CM1 and BI in patients with FD/MAS, and to determine mechanisms of cranial base deformities...
June 20, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Seongwon Cha, Ji Eun Lim, Ah Yeon Park, Jun-Hyeong Do, Si Woo Lee, Chol Shin, Nam Han Cho, Ji-One Kang, Jeong Min Nam, Jong-Sik Kim, Kwang-Man Woo, Seung-Hwan Lee, Jong Yeol Kim, Bermseok Oh
BACKGROUND: Face morphology is strongly determined by genetic factors. However, only a small number of genes related to face morphology have been identified to date. Here, we performed a two-stage genome-wide association study (GWAS) of 85 face morphological traits in 7569 Koreans (5643 in the discovery set and 1926 in the replication set). RESULTS: In this study, we analyzed 85 facial traits, including facial angles. After discovery GWAS, 128 single nucleotide polymorphisms (SNPs) showing an association of P < 5 × 10- 6 were selected to determine the replication of the associations, and meta-analysis of discovery GWAS and the replication analysis resulted in five genome-wide significant loci...
June 19, 2018: BMC Genomics
Maria N Gribova, Cory M Resnick, Britt I Pluijmers, Cornelia J J M Caron, Alessandro Borghi, Maarten J Koudstaal, Bonnie L Padwa
PURPOSE: Craniofacial microsomia (CFM) is characterized by malformations of structures derived from the first and second pharyngeal arches. The orbit is variably affected. The purpose of this study was to determine whether there is a difference in orbital volume between affected and unaffected sides in patients with unilateral CFM. The specific aims were to 1) measure orbital volume, 2) compare affected and unaffected sides, 3) evaluate the correlation between clinical evaluation of orbital size and volumetric measurement, and 4) determine whether there is a correlation between orbital volume and severity of mandibular deformity...
May 31, 2018: Journal of Oral and Maxillofacial Surgery
Anna Sowińska-Seidler, Ewelina M Olech, Magdalena Socha, Dawid Larysz, Aleksander Jamsheer
Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30-60% of patients, CS is caused by known genetic factors; however, in the rest of the cases, causative molecular lesions remain unknown. In this paper, we report on a sporadic male patient affected by complex CS (metopic and unilateral lambdoid synostosis), muscular hypotonia, psychomotor retardation, and facial dysmorphism...
May 29, 2018: Journal of Applied Genetics
Ian C Welsh, James Hart, Joel M Brown, Karissa Hansen, Marcelo Rocha Marques, Robert J Aho, Irina Grishina, Romulo Hurtado, Doris Herzlinger, Elisabetta Ferretti, Maria J Garcia-Garcia, Licia Selleri
Orofacial clefting represents the most common craniofacial birth defect. Cleft lip with or without cleft palate (CL/P) is genetically distinct from cleft palate only (CPO). Numerous transcription factors (TFs) regulate normal development of the midface, comprising the premaxilla, maxilla and palatine bones, through control of basic cellular behaviors. Within the Pbx family of genes encoding Three Amino-acid Loop Extension (TALE) homeodomain-containing TFs, we previously established that in the mouse, Pbx1 plays a preeminent role in midfacial morphogenesis, and Pbx2 and Pbx3 execute collaborative functions in domains of coexpression...
May 23, 2018: Journal of Anatomy
Hirokazu Morokawa, Motoko Kamiya, Keiko Wakui, Mikiko Kobayashi, Takashi Kurata, Kazuyuki Matsuda, Rie Kawamura, Hiroyuki Kanno, Yoshimitsu Fukushima, Yozo Nakazawa, Tomoki Kosho
We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constitutional pure duplication 1q41-qter include developmental delay, craniofacial characteristics, foot malformation, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown...
2018: Human Genome Variation
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
Salvatore Stefanelli, Pravin Mundada, Anne-Laure Rougemont, Vincent Lenoir, Paolo Scolozzi, Laura Merlini, Minerva Becker
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract...
May 15, 2018: Insights Into Imaging
Kirun Baweja, Alexander H Sun, Rajendra Sawh-Martinez, John A Persing
AIM: This study chronicles skull base and face development in nonsyndromic unilateral coronal synostosis (UCS) during infancy, to characterize the mechanistic progression of facial dysmorphology. METHODS: Computed tomography scans from 51 subjects were reviewed (26 UCS, 25 controls) and data were reconstructed. Patients were stratified into 5 age groups. A series of measurements were taken from the reconstructions. RESULTS: All patients had a unilaterally fused coronal suture at the time of analysis...
May 14, 2018: Journal of Craniofacial Surgery
Irina Stupar, Enver Yetkiner, Daniel Wiedemeier, Thomas Attin, Rengin Attin
Background: Lateral Cephalometric Radiographs (LCR) are a common decision-making aid in orthodontic treatment planning and are routinely used in clinical practice. The aim of this present study was to test the null hypothesis that LCR evaluation does not alter specific components of orthodontic treatment planning in Class II patients. Materials and Methods: Records of 75 patients, who had been treated at the Department of Orthodontics, Centre of Dental Medicine, University of Zurich comprised the study material...
2018: Open Dentistry Journal
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here, we report a novel hypomorphic MMP14 p.Arg111His (R111H) allele, associated with a mitigated form of WS. Functional analysis demonstrated that this mutation, in contrast to previously reported human and murine MMP14 mutations, does not affect MMP14's transport to the cell membrane...
May 8, 2018: Human Molecular Genetics
Jing Yang, Yacheng Hu, Kan Xiao, Xueqing Liu, Chun Tan, Binzhong Wang, Hejun Du
The Chinese sturgeon (Acipenser sinensis) is an anadromous fish distributed in the Yangtze River and the East China Sea. In this study, we report the novel finding of cleft palates in Chinese sturgeons derived from artificial fertilization. To explore the genetic basis of palate malformation in A. sinensis, Illumina RNA-seq technology was used to analyze the transcriptome data of farmed Chinese sturgeons with normal palates and cleft-palates. Raw reads were obtained and assembled into 808,612 unigenes, with an average length of 509...
May 4, 2018: Gene
Catherine H H Hor, Bor Luen Tang, Eyleen L K Goh
Rab23 is a conserved member of the Rab family of small GTPases that regulates membrane trafficking in eukaryotes. It is unique amongst the Rabs in terms of its implicated role in mammalian development, as originally illustrated by the embryonic lethality and open neural tube phenotype of a spontaneous mouse mutant that carries homozygous mutation of open brain, a gene encoding Rab23. Rab23 was initially identified to act as an antagonist of Sonic hedgehog (Shh) signaling, and has since been implicated in a number of physiological and pathological roles, including oncogenesis...
May 4, 2018: Reviews in the Neurosciences
Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen L Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, Elizabeth A Worthey, Shawn Levy, Michael F Wangler, Hugo J Bellen, Vandana Shashi, Shinya Yamamoto
The seventeen genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report four individuals with an overlapping spectrum of craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments, reminiscent of DiGeorge syndrome, who are heterozygotes for TBX2 variants...
May 2, 2018: Human Molecular Genetics
Amanda K Powers, Shane A Kaplan, Tyler E Boggs, Joshua B Gross
The precise mechanisms underlying cranial bone development, evolution and patterning remain incompletely characterised. This poses a challenge to understanding the etiologies of craniofacial malformations evolving in nature. Capitalising on natural variation, "evolutionary model systems" provide unique opportunities to identify underlying causes of aberrant phenotypes as a complement to studies in traditional systems. Mexican blind cavefish are a prime evolutionary model for cranial disorders since they frequently exhibit extreme alterations to the skull and lateral asymmetries...
May 3, 2018: Scientific Reports
Kohei Kitami, Megumi Kitami, Masaru Kaku, Bin Wang, Yoshihiro Komatsu
Craniofacial abnormalities, including facial skeletal defects, comprise approximately one-third of all birth defects in humans. Since most bones in the face derive from cranial neural crest cells (CNCCs), which are multipotent stem cells, craniofacial bone disorders are largely attributed to defects in CNCCs. However, it remains unclear how the niche of CNCCs is coordinated by multiple gene regulatory networks essential for craniofacial bone development. Here we report that tumor suppressors breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) are required for craniofacial bone development in mice...
May 2018: PLoS Genetics
Kana Ishii, Kusumika Mukherjee, Takashi Okada, Eric C Liao
Background: Craniofacial malformations are among the most common congenital anomalies. Cranial neural crest cells (CNCCs) form craniofacial structures involving multiple cellular processes, perturbations of which contribute to craniofacial malformations. Adhesion of cells to the extracellular matrix mediates bidirectional interactions of the cells with their extracellular environment that plays an important role in craniofacial morphogenesis. Talin (tln) is crucial in cell-matrix adhesion between cells, but its role in craniofacial morphogenesis is poorly understood...
March 2018: Plastic and Reconstructive Surgery. Global Open
Hunter LeCorgne, Andrew M Tudosie, Kari Lavik, Robin Su, Kathryn N Becker, Sara Moore, Yashna Walia, Alexander Wisner, Daniel Koehler, Arthur S Alberts, Frederick E Williams, Kathryn M Eisenmann
The mammalian Diaphanous-related (mDia) formins are cytoskeletal regulators that assemble and, in some cases, bundle filamentous actin (F-actin), as well as stabilize microtubules. The development of small molecule antagonists and agonists that interrogate mDia formin function has allowed us to investigate the roles of formins in disease states. A small molecule inhibitor of FH2 domain (SMIFH2) inhibits mDia-dependent actin dynamics and abrogates tumor cell migration and cell division in vitro and ex vivo tissue explants...
2018: Frontiers in Pharmacology
Ambre Simon, Emmanuelle Bocquet, Philippe Pellerin, Matthieu Vinchon, Patrick Dhellemmes, Véronique Martinot, Alexis Wolber, Clotilde Calibre, Philippe Charlier, Pierre Guerreschi
Synostotic anterior plagiocephaly is a rare pathological cranial malformation. Therapeutic options are rarely studied due to the rarity of the malformation and difficulties in diagnosis and care management. The objective of this study was to analyze the results obtained with the Lille protocol based on 62 CT-scans done before and after surgery in 31 patients. A specific analysis was designed for this work. Nine cephalometric measures enabled to evidence on each CT-Scan the corrections made on the fronto-orbital bandeau and the potential impact of surgery on the craniofacial structures...
June 2018: Journal of Cranio-maxillo-facial Surgery
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