scholarly journals Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Ru Xue ◽  
Guoqing Zhang ◽  
Xiafang Chen ◽  
Xiuxia Ye
Keyword(s):  
Respiratory Distress ◽  
Pectus Excavatum ◽  
Cleidocranial Dysplasia ◽  
Inherited Disease ◽  
Supernumerary Teeth ◽  
Adequate Treatment ◽  
Related Transcription Factor ◽  
Ear Infections ◽  
Standard Medical Treatment ◽  
Delayed Closure

Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.

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 Hypodontia and Delayed Dentition as the Primary Manifestation of Cleidocranial Dysplasia Presenting with a Diagnostic Dilemma

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Radhika Chopra ◽  
Mohita Marwaha ◽  
Payal Chaudhuri ◽  
Kalpana Bansal ◽  
Saurabh Chopra
Keyword(s):  
Family History ◽  
Tooth Development ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Diagnostic Dilemma ◽  
Girl Child ◽  
Delayed Closure

Cleidocranial dysplasia is a rare autosomal disorder which manifests as partial or complete absence of clavicles, multiple supernumerary teeth, and delayed closure of fontanelle. Classical cases of cleidocranial dysplasia are easily diagnosed very early in the life. However, cases with partial manifestation of the syndrome and noncontributory family history are difficult to diagnose. Here, we report a case of 8.5-year-old girl child who presented with delayed tooth development (without any supernumerary teeth), anterior open fontanelle, and normal clavicles, thus resulting in a diagnostic dilemma.

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 Cleidocranial dysplasia-dental disorder treatment and audiology diagnosis

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Teresa Matthews-Brzozowska ◽  
Dorota Hojan-Jezierska ◽  
Wawrzyniec Loba ◽  
Marta Worona ◽  
Artur Matthews-Brzozowski
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Case Reports ◽  
Permanent Teeth ◽  
Deciduous Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
The Many ◽  
Delayed Closure ◽  
Conductive Hearing

AbstractA review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of CCD symptoms that include hypoplastic or aplastic clavicles, impacted and supernumerary teeth, delayed closure of fontanelles and cranial sutures, impairment of the hearing system resulting in conductive hearing loss also occurs. Our own report is based on the case of a 12-year-old CCD patient, in whom Cone Beam Computed Tomography (CBCT) revealed the presence of 12 supernumerary teeth. Furthermore, a clinical examination pointed to the presence of retained deciduous teeth and a delayed eruption of permanent teeth. Orthodontic-surgical procedures were implemented, in accordance with the literature. During the course of the orthodontic treatment, a decrease in auditory sensitivity was observed, for which reason hearing tests were also performed. Conductive hearing loss was detected. As such, it is important to remember that in such cases, auditory check-ups need to be performed between the many surgical and orthodontic interventions, which usually last a few years.

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.

Progressive Development of Supernumerary Teeth in Cleidocranial Dysplasia

1989 ◽  
Vol 16 (2) ◽  
pp. 103-106 ◽  
Author(s):  
K. Frame ◽  
R. I. W. Evans
Keyword(s):  
Treatment Period ◽  
Permanent Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Progressive Development ◽  
The Future

A 9-year-old boy suffering from cleidocranial dysplasia presented with multiple unerupted permanent teeth and five unerupted supernumerary teeth. During a 4-year observation and treatment period he developed nine more supernumerary teeth at a time when normally new teeth would no longer be forming. By the age of 13 years and 5 months a total of fourteen supernumerary teeth had been produced and it is possible that more teeth may develop in the future.

Multiple Supernumerary Teeth Associated with Bony Malformations

2011 ◽  
Vol 36 (2) ◽  
pp. 207-210 ◽  
Author(s):  
Rekhalakshmi Kamatham ◽  
J Sharada ◽  
Abinash Mohapatra ◽  
Sivakumar Nuvvula
Keyword(s):  
Cleidocranial Dysplasia ◽  
Early Age ◽  
Supernumerary Teeth ◽  
Atypical Case

Full blown cases of cleidocranial dysplasia (CCD) have been reported earlier, but a case with a rarity of 60 teeth associated with bony malformations, is seldom observed. Because of the oral findings this condition has been diagnosed at an early age, thus helping to achieve a better oral harmony. This article reports an atypical case with 16 supernumerary teeth associated with bony malformations.

scholarly journals Early Identification and Diagnostic Approach in Acute Respiratory Distress Syndrome (ARDS)

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2307
Author(s):  
François Arrivé ◽  
Rémi Coudroy ◽  
Arnaud W. Thille
Keyword(s):  
Acute Respiratory Distress Syndrome ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Early Identification ◽  
Distress Syndrome ◽  
Invasive Mechanical Ventilation ◽  
Specific Treatment ◽  
Diagnostic Approach ◽  
Adequate Treatment ◽  
Work Up

Acute respiratory distress syndrome (ARDS) is a life-threatening condition defined by the acute onset of severe hypoxemia with bilateral pulmonary infiltrates, in the absence of a predominant cardiac involvement. Whereas the current Berlin definition was proposed in 2012 and mainly focused on intubated patients under invasive mechanical ventilation, the recent COVID-19 pandemic has highlighted the need for a more comprehensive definition of ARDS including patients treated with noninvasive oxygenation strategies, especially high-flow nasal oxygen therapy, and fulfilling all other diagnostic criteria. Early identification of ARDS in patients breathing spontaneously may allow assessment of earlier initiation of pharmacological and non-pharmacological treatments. In the same way, accurate identification of the ARDS etiology is obviously of paramount importance for early initiation of adequate treatment. The precise underlying etiological diagnostic (bacterial, viral, fungal, immune, malignant, drug-induced, etc.) as well as the diagnostic approach have been understudied in the literature. To date, no clinical practice guidelines have recommended structured diagnostic work-up in ARDS patients. In addition to lung-protective ventilation with the aim of preventing worsening lung injury, specific treatment of the underlying cause has a central role to improve outcomes. In this review, we discuss early identification of ARDS in non-intubated patients breathing spontaneously and propose a structured diagnosis work-up.

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