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Case Reports
. 2020 Aug;112(14):1085-1092.
doi: 10.1002/bdr2.1711. Epub 2020 May 27.

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder

Andrea Accogli  1   2 , Marcello Scala  1   2 , Marco Pavanello  3 , Mariasavina Severino  4 , Carlo Gandolfo  4 , Patrizia De Marco  1 , Francesco Musacchia  5 , Annalaura Torella  5   6 , Michele Pinelli  5 , Vincenzo Nigro  5   6 , Valeria Capra  3
Affiliations
Case Reports

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder

Andrea Accogli et al. Birth Defects Res. 2020 Aug.

Abstract

Background: Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.

Cases: We report two subjects harboring de novo heterozygous missense variants in TRAF7, namely the recurrent 1964G>A(p.Arg655Gln) and the novel missense c.1204C>G(p.Leu402Val) variants. In addition to the typical hallmarks of the TRAF7-related disorder, both subjects presented with a recognizable "pear-shaped" skull due to multiple craniosynostosis, sinus pericranii, skull base/cranio-cervical junction anomalies, dysgyria, and inferior cerebellar vermis hypoplasia.

Conclusions: Hence, we expand the genotypic and phenotypic spectrum of this neurodevelopmental disorder, discussing possible implications for clinical management of subjects with germline TRAF7 mutations.

Keywords: RASopathies; TRAF7; cranio-cervical junction anomaly; craniosynostosis; dysgyria; sinus pericranii.

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