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Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

โœ Scribed by Giannotti, Aldo; Digilio, Maria Cristina; Mingarelli, Rita; Marino, Bruno; Dallapiccola, Bruno


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
23 KB
Volume
73
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19971212)73:2<227::aid-ajmg21>3.0.co;2-r

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โœฆ Synopsis


We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously.


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