Oro-Facial-Digital Syndrome: Unspecified Type with the Spontaneous Fusion of Cleft Palate.
Ontology highlight
ABSTRACT: Oro-facial-digital syndrome (OFD) is a disorder with varied inheritance patterns. They deal mainly with abnormalities of the face, digits, i.e., fingers and toes, and oral cavity. Hypoplasia of nasal alar cartilage, broad nasal bridge, frontal bossing, and micrognathia are the common facial abnormalities observed in its multiple potential forms. Among the oral features, lobulated tongue, multiple frenulae, and cleft lip/palate are the common findings. The subject presented in our case manifested cleft of the hard palate at the time of presentation, along with other diverse features, which could not match any of the defined OFD types in literature. Furthermore, follow-up of the infant observed closure of the palate spontaneously, without any intervention. Hence, the purpose is to add to the knowledge the typical features of this unspecified type of OFD, along with this unique unprompted cleft palate closure, which aroused the need of close watch in such cases.
SUBMITTER: Verma PK
PROVIDER: S-EPMC8740786 | biostudies-literature |
REPOSITORIES: biostudies-literature
ACCESS DATA