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

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

Hum Genome Var. 2022 Mar 31;9(1):9. doi: 10.1038/s41439-022-00187-9.

Authors

Yasutsugu Chinen^{1

2}, Sadao Nakamura³, Kumiko Yanagi⁴, Takuya Kaneshi³, Hideki Goya³, Tomohide Yoshida³, Kazuhito Satou⁴, Tadashi Kaname⁴, Kenji Naritomi⁵, Koichi Nakanishi^{3

6}

Affiliations

¹ Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan. [email protected].
² Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan. [email protected].
³ Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.
⁴ Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
⁵ Okinawa Nanbu Habilitation and Medical Center, Naha, Okinawa, Japan.
⁶ Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan.

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.

Abstract

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