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The face signature of fibrodysplasia ossificans progressiva
Author(s) -
Hammond Peter,
Suttie Michael,
Hennekam Raoul C.,
Allanson Judith,
Shore Eileen M.,
Kaplan Frederick S.
Publication year - 2012
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.35346
Subject(s) - fibrodysplasia ossificans progressiva , mandible (arthropod mouthpart) , anatomy , skeleton (computer programming) , medicine , biology , ossification , zoology , genus
Fibrodysplasia ossificans progressiva (FOP) causes extensive heterotopic bone formation due to heterozygous mutations in the glycine‐serine activation domain of ACVR1 (ALK2) , a bone morphogenetic protein type I receptor. Anecdotal observations of facial similarity have been made by clinicians and parents, but no objective quantitative analysis of the faces of FOP patients has ever been undertaken. We delineated the common facial characteristics of 55 individuals with molecularly confirmed FOP by analyzing their face signature (face shape difference normalized against age and sex matched controls) and associated face signature graphs (with face signatures as vertices and adjacency corresponding to greatest similarity). Our analysis identified 10 affected individuals whose face signature is more homogeneous than others with FOP. This distinct subgroup showed the previously identified reduced mandible as well as newly identified features: underdevelopment of the upper orbit/supra‐orbital ridge; infra‐orbital prominence; and, low‐set ears. These findings strongly suggest that the canonical FOP mutation variably affects the postnatal morphogenesis of the normotopic cranial skeleton in the upper midface and mandible and may have important diagnostic and functional implications. © 2012 Wiley Periodicals, Inc.