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

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.

SUBMITTER: Chinen Y 

PROVIDER: S-EPMC8971417 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature