Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Yasutsugu Chinen; Sadao Nakamura; Kumiko Yanagi; Takuya Kaneshi; Hideki Goya; Tomohide Yoshida; Kazuhito Satou; Tadashi Kaname; Kenji Naritomi; Koichi Nakanishi

doi:10.1038/s41439-022-00187-9

Human Genome Variation (Mar 2022)

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Yasutsugu Chinen,
Sadao Nakamura,
Kumiko Yanagi,
Takuya Kaneshi,
Hideki Goya,
Tomohide Yoshida,
Kazuhito Satou,
Tadashi Kaname,
Kenji Naritomi,
Koichi Nakanishi

Affiliations

Yasutsugu Chinen: Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
Sadao Nakamura: Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
Kumiko Yanagi: Department of Genome Medicine, National Center for Child Health and Development
Takuya Kaneshi: Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
Hideki Goya: Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
Tomohide Yoshida: Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
Kazuhito Satou: Department of Genome Medicine, National Center for Child Health and Development
Tadashi Kaname: Department of Genome Medicine, National Center for Child Health and Development
Kenji Naritomi: Okinawa Nanbu Habilitation and Medical Center
Koichi Nakanishi: Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus

DOI: https://doi.org/10.1038/s41439-022-00187-9
Journal volume & issue: Vol. 9, no. 1
pp. 1 – 4

Abstract

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Abstract We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern.

Published in Human Genome Variation

ISSN: 2054-345X (Online)
Publisher: Nature Publishing Group
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics; Science: Biology (General): Life
Website: http://www.nature.com/hgv/

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