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Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1 G328E variant
Author(s) -
MartínGarcía Diana,
Towler O. Will,
Xu Meiqi,
AlfonsoHernández Osmany,
Oliveira Paula R.,
AlonsoClavo Marleny,
Shore Eileen M.,
Kaplan Frederick S.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62253
Subject(s) - fibrodysplasia ossificans progressiva , heterotopic ossification , presentation (obstetrics) , ossification , medicine , myositis ossificans , clinical trial , surgery
Little is known about FOP in Africa and few cases of nonclassic fibrodysplasia ossificans progressiva (FOP) have been reported on the continent. Here we report a three‐year‐old girl from Angola with a nonclassic FOP clinical presentation that is characterized by complex malformations of the toes and fingers, reduction defects of the digits, absence of nails, progressive heterotopic ossification, and a confirmed heterozygous ACVR1 variant at c.983G > A. Emerging knowledge of FOP can serve as a catalyst for increasing awareness of FOP in under‐represented medical communities by achieving a correct FOP diagnosis, improving access of individuals with FOP to clinical trial recruitment, and enhancing the ability of affected individuals to be part of and interact with the international FOP community.