Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Blankenstein, R. et al.

Oral findings in Carpenter syndrome.

Acrocephalopolysyndactyly Type II (Carpenter Syndrome) is determined by autosomal recessive inheritance. Only some 40 cases have been described. Variable clinical signs have been described including prolonged retention of primary teeth and hypodontia. This paper describes the oral and dental findings in a family containing two affected brothers. The family pedigree is informative, as the mother has had children by three partners. The two affected individuals are full brothers. The first affected brother has delayed dental development, severe hypodontia and small tooth crown size. Mesio-distal and bucco-lingual dimensions were measured on the study models and compared with population data. The younger brother also has delayed dental development but only mild hypodontia. Their half sister has severe hypodontia but no signs of Carpenter Syndrome. This family study demonstrates two affected individuals with typical clinical features and a pedigree compatible with autosomal recessive inheritance. Small tooth crown size has been shown by standardized measurement and evidence advanced that hypodontia is not part of the syndrome but a coincidental finding which segregates independently. We have also shown that the marked delay in emergence of teeth is associated more with problems of tooth eruption, possibly related to the bony abnormalities, than to a generalized delay in dental development.[1]

References

Oral findings in Carpenter syndrome. Blankenstein, R., Brook, A.H., Smith, R.N., Patrick, D., Russell, J.M. International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children. (2001) [Pubmed]

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