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Article

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

BMC medical genetics - 29 Sept 2020

Kartalias Katina, Gillies Austin P, Peña Maria T, Estrada Andrea, Bulas Dorothy I, Ferreira Carlos R, Tosi Laura L

Abstract excerpt

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 on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. We present a 14-year overview...

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Identifiers

PMID: 32993552
DOI: 10.1186/s12881-020-01127-6
PMCID: PMC7526353

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