The face signature of fibrodysplasia ossificans progressiva.

American Journal of Medical Genetics. Part a
Peter HammondFrederick S Kaplan

Abstract

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 impo...Continue Reading

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Citations

Dec 6, 2012·European Journal of Human Genetics : EJHG·Inge HeulensPeter Hammond
Feb 27, 2013·Pediatrics·Michael SuttiePeter Hammond
Mar 22, 2012·Human Mutation·Peter Hammond, Michael Suttie
Sep 19, 2012·American Journal of Medical Genetics. Part a·Daniel Rocha CarvalhoCarlos Eduardo Speck-Martins
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Aug 3, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·John C Carey
Oct 16, 2018·The Journal of Craniofacial Surgery·Hanneke BasartPeter Hammond
Jan 6, 2017·BioMed Research International·Jasmien RoosenboomPeter Claes
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Apr 22, 2021·Computer Methods and Programs in Biomedicine·Floor A M PostemaPeter Hammond
Jul 6, 2021·Brain Communications·Simona BalestriniSanjay M Sisodiya

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