Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome |
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| Authors: | D. G. Starr J. P. McClure J. M. Connor |
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| Affiliation: | Oral Surgery Unit, North Ayrshire District General Hospital, Kilmarnock;Ayrshire Central Hospital, Kilwinning Road, Irvine;Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, U.K. |
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| Abstract: | We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance. |
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| Keywords: | Contractures dwarfism hypodontia hypogonadism osteogenic sarcoma poikiloderma congenitale recessive genes |
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