A case of Coffin–Lowry syndrome with premature exfoliation of primary teeth

Igari, Kazuko; Hozumi, Y; Monma, Yuto; Mayanagi, Hideaki

doi:10.1111/j.1365-263x.2006.00698.x

Cited by 8 publications

(7 citation statements)

References 10 publications

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“…The boy in this case had typical facial characteristics of CLS, but of the oral signs, he only presented with thick, prominent lips, small incisors, and early tooth loss. There are several previous reports on premature loss of teeth in CLS 2–4 but this is only the second report of hypoplastic root cementum as a plausible explanation, thus confirming the finding by Day et al. 2 In the report by Hartsfield et al.…”

Section: Discussionsupporting

confidence: 84%

“…In the case described by Igari et al. , 4 the primary teeth exfoliated after rapidly progressing root resorption and it was not possible to analyse the root surfaces. Day et al.…”

Section: Discussionmentioning

confidence: 99%

“…There are several previous reports on premature loss of teeth in CLS 2-4 but this is only the second report of hypoplastic root cementum as a plausible explanation, thus confirming the finding by Day et al 2 In the report by Hartsfield et al, 3 the mother of a boy with CLS told that he had lost several primary teeth at an early age, but it does not say if it was with or without preceding root resorption. In the case described by Igari et al, 4 the primary teeth exfoliated after rapidly progressing root resorption and it was not possible to analyse the root surfaces. Day et al suggested in their publication that if more cases of CLS with hypoplastic cementum were identified, CLS could be added to the list of differential diagnoses where there is premature loss of primary teeth.…”

Section: Discussionmentioning

confidence: 99%

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Hypoplastic root cementum and premature loss of primary teeth in Coffin–Lowry syndrome: a case report

Norderyd¹,

Aronsson

2011

Int J Paed Dentistry

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Section: Discussionsupporting

confidence: 84%

“…In the case described by Igari et al. , 4 the primary teeth exfoliated after rapidly progressing root resorption and it was not possible to analyse the root surfaces. Day et al.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Hypoplastic root cementum and premature loss of primary teeth in Coffin–Lowry syndrome: a case report

Norderyd¹,

Aronsson

2011

Int J Paed Dentistry

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“…1). Premature loss of the primary dentition was also observed, and wide spaced teeth and large medial incisors were reported [1], [4], [5].…”

Section: Introductionmentioning

confidence: 99%

RSK2 Is a Modulator of Craniofacial Development

et al. 2014

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BackgroundThe RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized.Methodology/Principal FindingsWe examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants. We report Rsk mutation produces surpernumerary teeth midline/mesial to the first molar. This highly penetrant phenotype recapitulates more ancestral tooth structures lost with evolution. Most likely this leads to a reduction of the maxillary diastema. Abnormalities of molar shape were generally restricted to the mesial part of both upper and lower first molars (M1). Expression analysis of the four Rsk genes (Rsk1, 2, 3 and 4) was performed at various stages of odontogenesis in wild-type (WT) mice. Rsk2 is expressed in the mesenchymal, neural crest-derived compartment, correlating with proliferative areas of the developing teeth. This is consistent with RSK2 functioning in cell cycle control and growth regulation, functions potentially responsible for severe dental phenotypes. To uncover molecular pathways involved in the etiology of these defects, we performed a comparative transcriptomic (DNA microarray) analysis of mandibular wild-type versus Rsk2-/Y molars. We further demonstrated a misregulation of several critical genes, using a Rsk2 shRNA knock-down strategy in molar tooth germs cultured in vitro.ConclusionsThis study reveals RSK2 regulates craniofacial development including tooth development and patterning via novel transcriptional targets.

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“…Coffin–Lowry syndrome is a rare genetic disorder. Affected children show signs of mental retardation, short stature, thick hands with tapering fingers, and characteristic facial features such as marked hypertelorism, thick lips, large nose with broad base, short upturned nostrils, and protuberant ears [ 31 , 32 , 33 ]. Hartsfield et al suggested that sensorineural hearing deficits may also be a manifestation of CLS [ 31 ].…”

Section: Resultsmentioning

confidence: 99%

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review

Spodzieja

Olczak‐Kowalczyk

2022

IJERPH

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Background: Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorders that can lead to premature loss of deciduous teeth in children and to provide a comprehensive resource for clinical practice for both physicians and dentists. Methods: This study is a narrative review of original studies and case reports published in English and Polish between 1957 and 2021 that was conducted by searching electronic scientific resources: PubMed, Google Scholar, Web of Science, and Science Direct. The schema of the qualification process is represented by a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). In total, 196 articles were identified; after provisional assessment of the titles and abstracts by two reviewers, 46 were found to be relevant to the topic, including 1 review, 16 original papers, and 27 case reports regarding systemic disease resulting in premature tooth loss. Results: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon–Lefèvre syndrome, mucocutaneous dyskeratosis, Coffin–Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypophosphatasia, acatalasia, Chediak–Higashi syndrome, cyclic neutropenia, erythromelalgia, Down syndrome, Hajdu–Cheney syndrome, short bowel syndrome, leukocyte adhesion deficiency type 1 (LAD-1), and Wiedemann–Steiner syndrome (WSS).

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A case of Coffin–Lowry syndrome with premature exfoliation of primary teeth

Cited by 8 publications

References 10 publications

Hypoplastic root cementum and premature loss of primary teeth in Coffin–Lowry syndrome: a case report

Hypoplastic root cementum and premature loss of primary teeth in Coffin–Lowry syndrome: a case report

RSK2 Is a Modulator of Craniofacial Development

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review

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