Cleidocranial dysplasia with autosomal dominant inheritance pattern

Bhargava, Puneet; Khan, Shabab Ahmed; Sharma, Rahul; Bhargava, Shaveta

doi:10.4103/2141-9248.138042

Cited by 5 publications

(1 citation statement)

References 5 publications

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“…However, radiographic interpretations of such patients should always be conducted in conjunction with clinical findings to rule out any syndromic involvement. Advanced radiographic techniques such as computed tomography and cone-beam computed tomography are indicated in cases of syndromic manifestations ( Table 2 ) 10 - 12 or complications associated with supernumerary teeth. Deepti (2013) proposed a decision-making system for the management of supernumerary teeth.…”

Section: Discussionmentioning

confidence: 99%

Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

Tanwar¹,

Jaitly²,

Sharma³

et al. 2017

J Dent Res Dent Clin Dent Prospects

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Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner’s syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients. Supernumerary teeth can be present in any region of the oral cavity. Although the occurrence of maxillary para-premolars is rare, radio-logical investigations play a major and decisive role in determining the management of such cases.

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Section: Discussionmentioning

confidence: 99%

Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

Tanwar¹,

Jaitly²,

Sharma³

et al. 2017

J Dent Res Dent Clin Dent Prospects

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A novel gene mutation of Runx2 in cleidocranial dysplasia

Peng

Chen

et al. 2017

CURR MED SCI

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Haploinsufficiency of the runt-related transcription factor 2 (Runx2) gene is widely known to be responsible for cleidocranial dysplasia (CCD). To date, more than 190 mutations in Runx2 gene have been reported to be related to CCD. In this study, a novel mutation of Runx2 gene was observed in a female with CCD. Genomic DNA was extracted from peripheral venous blood of the proband and eleven members of her family. Genetic testing on these twelve people identified a novel missense mutation (c.895 T>C, Y299H) in exon 5 of the RUNX2 gene in the proband. This mutation results in an amino acid change at codon 895 (P.Tyr 299 His.) from a tryptophan codon (TAT) to a histidine codon (CAT). Our finding may further extend the known mutation spectrum of the RUNX2 gene, and facilitate prenatal genetic diagnosis of CCD in the future.

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Cleidocranial dysostosis

et al. 2015

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DESCRIPTIONCleidocranial dysostosis (CCD) is a rare autosomaldominant skeletal disorder presenting with a variety of unique clinical and radiological features that can prove to be a diagnostic challenge.1 2 A 15-year-old boy, born of non-consanguineous parents, presented with short stature, delay in eruption of permanent teeth and facial dysmorphism. On examination, his height was 155 cm at the 10th centile on Agarwal's growth chart, with a midparenteral height of 165.5 cm. He had a triangular face and hypertelorism with the lower part of his face being hypoplastic. Oral examination revealed persistent temporary milk teeth. The patient had normal secondary sexual characters. He was able to approximate his shoulders due to the presence of hypoplastic clavicles (figure 1). Laboratory tests showed a normal haemogram. His renal functions were normal with corrected serum calcium 9.2 mg/ dL (8.3-10.4), phosphate 3.2 mg/dL (2.6-4.5), alkaline phosphatase 74 IU/dL (40-125) and 25-hydroxyvitamin D levels 38 ng/dL. X-ray of the skull was suggestive of open anterior and posterior fontanelles with hypoplastic maxillae and absent frontal sinuses (figure 2). X-ray of the chest showed hypoplastic clavicles bilaterally (figure 3). In view of the clinical and radiological presentation, a diagnosis of CCD caused by mutations in the RUNX2 gene (6p21), which is involved in osteoblast differentiation and bone formation, was made. It is known that mutations with large penetrance and

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Cleidocranial dysplasia with autosomal dominant inheritance pattern

Cited by 5 publications

References 5 publications

Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

A novel gene mutation of Runx2 in cleidocranial dysplasia

Cleidocranial dysostosis

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