Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report

Abstract Background Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports o...

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Bibliographic Details
Main Authors: Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Medical Genetics
Subjects:
Acroscyphodysplasia
Skeletal dysplasia
Cone-shaped epiphysis
Multidisciplinary management
Rare disorder
Online Access:http://link.springer.com/article/10.1186/s12881-020-01127-6

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