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

Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-sha...

Source: BMC Medical Genetics - September 29, 2020 Category: Genetics & Stem Cells Authors: Katina Kartalias, Austin P. Gillies, Maria T. Pe ña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira and Laura L. Tosi Tags: Case report Source Type: research