Langzeitbeobachtungen der Zahn- und Gebißentwicklung bei Patienten mit Dysostosis cleidocranialis

Fleischer-Peters, A; Müßig, D

doi:10.1007/bf02173284

Cited by 7 publications

(5 citation statements)

References 6 publications

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“…More than 100 other anomalies have also been associated with these major clinical features of the condition [1]. According to the patients, however, the major cause of restriction in their quality of life is the dental disturbances [4]. With the development of up to 63 supernumerary teeth, limited eruption force, impaction of permanent teeth, multiple follicular cysts and altered jaw development, early diagnosis is crucial to a timely introduction of an appropriate treatment regimen [5–7].…”

Section: Introductionmentioning

confidence: 99%

Early craniofacial signs of cleidocranial dysplasia

Golan¹,

Baumert²,

Hrala

et al. 2004

Int J Paed Dentistry

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As various indicators of CCD are age related, their expression should be taken into account for early diagnosis. Apparent signs only manifest during the growth spurt when the ideal timeframe for beginning treatment has already past. The symptoms described should serve as early markers to aid the general and paediatric dentist in planning appropriate treatment or referring patients to specialised centres.

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Section: Introductionmentioning

confidence: 99%

Early craniofacial signs of cleidocranial dysplasia

Golan¹,

Baumert²,

Hrala

et al. 2004

Int J Paed Dentistry

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“…Because of delayed skeletal development, commonly CCD patients are of short stature (3). Characteristic disorders in the primary and secondary dentition are frequently reported (4) (Tables 1 and 2). Mutations in the core‐binding factor α 1 ( CBFA1 ) gene (OMIM 600211) located on chromosome 6p21 have been shown to underlie CCD (5).…”

Section: Introductionmentioning

confidence: 99%

“…Different (diverging) symptoms of CCD and RTS(4,(23)(24)(25). Cardinal symptoms are highlighted in italics and bold typeface…”

mentioning

confidence: 99%

Atypical expression of cleidocranial dysplasia: clinical and molecular‐genetic analysis

Golan

Baumert

Wagener

et al. 2002

Orthod Craniofacial Res

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Cleidocranial dysplasia (CCD) and the Rubinstein-Taybi syndrome (RTS) are two rare congenital syndromes that have many clinical signs in common. We present an 18-year-old-patient with untypical CCD expression who was misdiagnosed with RTS at the age of 2 years. An extensive craniofacial examination was carried out with respect to morphological and dental aspects. The molecular-genetic analysis of two underlying genes (CBFA1 and CBP) for CCD and RTS was performed using SSCP, direct sequencing and FISH. While the clinical examination showed uncharacteristic CCD symptoms with some findings common for RTS, the molecular-genetic analysis revealed a missense mutation in the CBFA1 gene, which is considered to be the etiological factor for CCD. Our findings with this patient presented clear evidence for the wide morphologic variety that can be related to a certain gene such as CBFA1. The diagnosis of rare diseases is currently based on the clinical phenomenology of small groups or single cases. The use of molecular-genetic biology extends the horizon of diagnostic and scientific possibilities. In this patient, it allowed us to compare the clinically diagnosis to molecular-genetic data. We conclude that molecular-genetic analysis may be a helpful tool in the differential diagnosis of many congenital diseases such as CCD and RTS.

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“…Seit der Erstbeschreibung durch Marie & Sainton [20] und Scheuthauer [26], die den systematischen Zusammenhang der Dysplasien des Schädels und der Schlüssel-beine erkannten, haben eine Vielzahl von Wissenschaftlern, vor allem aus der Zahn-, Mund-und Kieferheilkunde, ein umfassendes klinisches Bild dieser Erkrankung gezeichnet [2,8,10,13,16,18,28,29]. Neben der präzisen Beschreibung der morphologisch-strukturellen Eigenschaften des Schädelskeletts und seiner charakteristischen Schaltknochen durch Hultkranz [14] vor etwa 100 Jahren haben sich insbesondere Fleischer-Peters & Müßig [6,7] und Tränkmann [29] mit den Entwicklungsstörungen und der Therapie des stomatognathen Systems bei Dysostosis cleidocranialis auseinandergesetzt.…”

Section: Introductionunclassified

“…Ever since Marie & Sainton [20] and Scheuthauer [26] first described this syndrome and recognized the systemic relation between dysplasia of the skull and the clavicles, many researchers, especially from the field of dental medicine, have compiled a comprehensive tableau of this syndrome [2,8,10,13,16,18,28,29]. Besides the precise outlining of the morphological and structural characteristics of the skull and the sutural bones specific to this syndrome by Hultkranz [14] almost a century ago, Fleischer-Peters & Müßig [6,7] and Tränkmann [29] in particular have dealt with the developmental anomalies and therapy of the stomatognathic system of patients suffering from cleidocranial dysplasia.…”

Section: Introductionmentioning

confidence: 99%