scholarly journals Reconstruction Using Free Vascularized Fibular Grafts after Wide Resection of Humerus Chondrosarcoma in a Patient with Cleidocranial Dysplasia

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Junya Shimizu ◽  
Kousuke Iba ◽  
Makoto Emori ◽  
Mikito Sasaki ◽  
Toshihiko Yamashita
Keyword(s):  
Hand Function ◽  
Wide Resection ◽  
Cleidocranial Dysplasia ◽  
Craniofacial Malformations ◽  
Bone And Cartilage Development ◽  
Related Transcription Factor ◽  
Activity Of Daily Life ◽  
Unerupted Teeth ◽  
Narrow Pelvis ◽  
Large Bone

Cleidocranial dysplasia is characterized by hypoplasia of the clavicles, unerupted teeth, narrow pelvis, short stature, and craniofacial malformations. A cause of this skeletal dysplasia is heterozygous mutations of the runt-related transcription factor 2 gene (Runx2), a master regulator for bone and cartilage development. Chondrosarcoma is a primary malignant bone tumor that is usually treated by wide resection surgery. This report shows a case of a 25-year-old female patient with cleidocranial dysplasia who was affected with chondrosarcoma of the left humerus. We performed wide resection of the tumor and reconstruction of the large bone defect of the humerus using free vascularized fibular grafts. The patient preserved the hand function and activity of daily life as the same level as preoperative condition more than five years after the surgery.

scholarly journals Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial Dysplasia

2021 ◽  
Author(s):  
Lei Gong ◽  
Bekzod Odilov ◽  
Feng Han ◽  
Fuqiang Liu ◽  
Yujing Sun ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
De Novo ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Functional Characterization ◽  
Sporadic Case ◽  
Luciferase Assay ◽  
Cleidocranial Dysplasia ◽  
Wild Type ◽  
Bone And Cartilage Development

Abstract BackgroundCleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in Runt-related Transcription Factor 2 (RUNX2) gene. In this study, we report a case with typical CCD presentations. MethodsWe performed genetic testing of participants and found a novel RUNX2 frameshift mutation: c.1550delT in a sporadic case. We also compared the functional activity of the mutant and wild-type RUNX2 through immunofluorescence microscopy and osteocalcin promoter luciferase assay. ResultsBoth mutant RUNX2 and wild‑type RUNX2 protein were similarly confined in the nuclei. The novel mutation caused abrogative transactivation activity of RUNX2 on osteocalcin promoter. ConclusionsWe explored a novel RUNX2 deletion/frameshift mutation in a sporadic CCD patient. This finding emphasizes on crucial role of VWRPY domain in RUNX2 transactivation ability.

scholarly journals Fibula-Assisted Segment Transport (FAST) for Defect Reconstruction after Resection of Tibial Adamantinoma: Report of Two Treatments

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
A. Rachbauer ◽  
A. Laufer ◽  
G. Gosheger ◽  
G. Toporowski ◽  
A. Frommer ◽  
...  
Keyword(s):  
Limb Lengthening ◽  
Bone Defects ◽  
Wide Resection ◽  
Leg Length ◽  
Segment Transport ◽  
Bone Segment ◽  
Segmental Bone ◽  
Bone Segment Transport ◽  
Large Bone ◽  
Large Bone Defects

Intramedullary limb lengthening via lengthening nails has been performed for more than three decades to overcome leg length inequalities. Plate-assisted bone segment transport (PABST) has recently been described for the reconstruction of segmental bone defects. We modified this procedure by using the ipsilateral fibula as a “biological plate” and report on its technical particularities and application in the reconstructive treatment of adamantinomas of the tibia in two patients. Both patients were successfully treated by wide resection and reconstruction of the tibial bone via bone segment transport through an expandable intramedullary nail using the remaining ipsilateral fibula to provide stabilization and guidance. This procedure was titled “fibula-assisted segment transport” (FAST). This is a new and promising technique that allows an entirely biological reconstruction of large bone defects of the tibia.

scholarly journals RUNX2-modifying enzymes: therapeutic targets for bone diseases

2020 ◽  
Vol 52 (8) ◽  
pp. 1178-1184 ◽  
Author(s):  
Woo-Jin Kim ◽  
Hye-Lim Shin ◽  
Bong-Soo Kim ◽  
Hyun-Jung Kim ◽  
Hyun-Mo Ryoo
Keyword(s):  
Posttranslational Modifications ◽  
Drug Targets ◽  
Osteoblast Differentiation ◽  
Bone Diseases ◽  
Cleidocranial Dysplasia ◽  
Cranial Suture ◽  
Craniofacial Malformations ◽  
Runx2 Expression ◽  
Regulatory Pathways ◽  
Contrast Gain

Abstract RUNX2 is a master transcription factor of osteoblast differentiation. RUNX2 expression in the bone and osteogenic front of a suture is crucial for cranial suture closure and membranous bone morphogenesis. In this manner, the regulation of RUNX2 is precisely controlled by multiple posttranslational modifications (PTMs) mediated by the stepwise recruitment of multiple enzymes. Genetic defects in RUNX2 itself or in its PTM regulatory pathways result in craniofacial malformations. Haploinsufficiency in RUNX2 causes cleidocranial dysplasia (CCD), which is characterized by open fontanelle and hypoplastic clavicles. In contrast, gain-of-function mutations in FGFRs, which are known upstream stimulating signals of RUNX2 activity, cause craniosynostosis (CS) characterized by premature suture obliteration. The identification of these PTM cascades could suggest suitable drug targets for RUNX2 regulation. In this review, we will focus on the mechanism of RUNX2 regulation mediated by PTMs, such as phosphorylation, prolyl isomerization, acetylation, and ubiquitination, and we will summarize the therapeutics associated with each PTM enzyme for the treatment of congenital cranial suture anomalies.

scholarly journals Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

Medicina ◽  
2021 ◽  
Vol 57 (12) ◽  
pp. 1350
Author(s):  
Alessio Danilo Inchingolo ◽  
Assunta Patano ◽  
Giovanni Coloccia ◽  
Sabino Ceci ◽  
Angelo Michele Inchingolo ◽  
...  
Keyword(s):  
Permanent Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Tooth Formation ◽  
Impacted Teeth ◽  
Surgery Outcome ◽  
Molecular Features ◽  
Tissue Healing ◽  
Related Transcription Factor ◽  
Delayed Closure

Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a prevalence of one per million births. The main causes of CCD are mutations in the core-binding factor alpha-1 (CBFA1) or runt-related transcription factor-2 (RUNX2), located at the 6p21 chromosomal region. RUNX2 plays important roles in osteoblast differentiation, chondrocyte proliferation and differentiation, and tooth formation. The disease is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). RX Orthopantomography (OPG) and cone beam computed tomography (CBCT) were requested to better assess the position of the supernumerary teeth and their relationships with others and to evaluate the bone tissue. Results: Under eruption was probably caused by dental interferences with supernumerary teeth; hence, extractions of supernumerary upper canines and lower premolars were performed under general anaesthesia. Surgery outcome was excellent with good tissue healing and improvements in the therapeutic possibilities with future orthodontics. Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life.

scholarly journals Cleidocranial dysplasia. A molecular and clinical review.

2018 ◽  
Vol 8 (1) ◽  
pp. 35-38
Author(s):  
Andrea Avendaño ◽  
Francisco Cammarata-Scalisi ◽  
Mochamad Fahlevi Rizal ◽  
Sarworini Bagio Budiardjo ◽  
Margaretha Suharsini ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Molecular Mechanisms ◽  
Target Genes ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Phenotypic Characteristics ◽  
Autosomal Dominant Disorder ◽  
Dental Abnormalities ◽  
Related Transcription Factor

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases leaving a large number of cases with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.

scholarly journals Multiple Impacted Teeth: Report of 3 Cases

2008 ◽  
Vol 02 (01) ◽  
pp. 73-78 ◽  
Author(s):  
Gürkan Raşit Bayar ◽  
Kerim Ortakoḡlu ◽  
Metin Sencimen
Keyword(s):  
Young Male ◽  
Rare Condition ◽  
Radiographic Examination ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Impacted Teeth ◽  
Young Males ◽  
Edentulous Mandible ◽  
Unerupted Teeth ◽  
Histopathological Studies

ABSTRACTWhile impaction of tooth is widespread, multiple impacted teeth by itself is a rare condition and often found in association with syndromes such as cleidocranial dysplasia or Gardner’s syndrome. A light of radiographic examination, we describe three Turkish young males with multiple impacted teeth who didn’t possess any systemic conditions or syndromes involving both jaws. The first patient, a 21-year-old young male, had 16 unerupted teeth and 5 unerupted supernumerary teeth. The second patient with totally edentulous mandible, a 20-year-old young male, had 31 unerupted teeth. The third patient, a 21-year-old young male, had 22 unerupted teeth and 4 unerupted supernumerary teeth. Based on the clinical presentation, radiographic examination and histopathological studies, this paper discusses the differential diagnosis and management of such cases. (Eur J Dent 2008;2:73-78)

Primary Index Finger Pollicization for Thumb Reconstruction Following Soft Tissue Sarcoma Excision

Hand Surgery ◽  
2015 ◽  
Vol 20 (03) ◽  
pp. 453-457 ◽  
Author(s):  
Velagala Satyanarayana Reddy ◽  
Adam Sierakowski ◽  
Madhu Periasamy ◽  
Shanmuganathan Raja Sabapathy
Keyword(s):  
Soft Tissue ◽  
Local Recurrence ◽  
Index Finger ◽  
Hand Function ◽  
Soft Tissue Sarcomas ◽  
Distant Metastases ◽  
Wide Resection ◽  
Thumb Reconstruction ◽  
Recurrence Rates ◽  
Interosseous Artery

Soft tissue sarcomas in the thumb are rare, but often require amputation to ensure tumour clearance. This can severely impair the use of the entire upper limb and negatively impact quality of life. We describe a 63-year-old male patient with a large malignant fibrous histiocytoma affecting the base of his dominant right thumb. A wide resection of this tumour was performed, followed immediately by index finger pollicization and first web space reconstruction with a reverse pedicled posterior interosseous artery flap. The patient was able to continue using his right hand for functions of daily living and was free from local recurrence until he died from distant metastases 2 years later. Primary thumb reconstruction following amputation for sarcoma can allow a patient to retain useful hand function postoperatively. Provided that strict principles of tumour clearance are adhered to, this need not compromise local recurrence rates.

scholarly journals Identification of RUNX2 variants associated with cleidocranial dysplasia

Hereditas ◽  
2019 ◽  
Vol 156 (1) ◽  
Author(s):  
Xueren Gao ◽  
Kunxia Li ◽  
Yanjie Fan ◽  
Yu Sun ◽  
Xiaomei Luo ◽  
...  
Keyword(s):  
Bioinformatics Analysis ◽  
De Novo ◽  
Pathogenic Variant ◽  
Experimental Result ◽  
Cleidocranial Dysplasia ◽  
Autosomal Dominant Disorder ◽  
Pathogenic Variants ◽  
Related Transcription Factor ◽  
High Throughput Dna Sequencing ◽  
Delayed Closure

Abstract Background Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple dental abnormalities, and short stature. Runt-related transcription factor 2 (RUNX2) gene variants can cause CCD, but are not identified in all CCD patients. Methods In this study, we detected genetic variants in seven unrelated children with CCD by targeted high-throughput DNA sequencing or Sanger sequencing. Results All patients carried a RUNX2 variant, totally including three novel pathogenic variants (c.722_725delTGTT, p.Leu241Serfs*8; c.231_232delTG, Ala78Glyfs*82; c.909C > G, p.Tyr303*), three reported pathogenic variants (c.577C > T, p.Arg193*; c.574G > A, p.Gly192Arg; c.673 C > T, p.Arg225Trp), one likely pathogenic variant (c.668G > T, p.Gly223Val). The analysis of the variant source showed that all variants were de novo except the two variants (c.909C > G, p.Tyr303*; c.668G > T, p.Gly223Val) inherited from the patient’s father and mother with CCD respectively. Further bioinformatics analysis indicated that these variants could influence the structure of RUNX2 protein by changing the number of H-bonds or amino acids. The experimental result showed that the Gly223Val mutation made RUNX2 protein unable to quantitatively accumulate in the nucleus. Conclusions The present study expands the pathogenic variant spectrum of RUNX2 gene, which will contribute to the diagnosis of CCD and better genetic counseling in the future.

Sign in / Sign up

Export Citation Format

Share Document