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

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...

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Detalles Bibliográficos
Autores principales: Chinen, Yasutsugu, Nakamura, Sadao, Yanagi, Kumiko, Kaneshi, Takuya, Goya, Hideki, Yoshida, Tomohide, Satou, Kazuhito, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971417/
https://www.ncbi.nlm.nih.gov/pubmed/35361766
http://dx.doi.org/10.1038/s41439-022-00187-9
Descripción
Sumario: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.

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