Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.

CONCLUSIONS: These new genetic variants will add to the spectrum of known OFD1 mutations associated with the OFD1 disorder. Our study also confirms the variable phenotypic presentation of OFD1 and its well-recognized association with central nervous system malformations and renal anomalies. Molecular diagnostic confirmation achieved in these families will have positive implications for their medical management.
PMID: 32064904 [PubMed - as supplied by publisher]

Source: The Cleft Palate-Craniofacial Journal - February 16, 2020 Category: ENT & OMF Authors: Faily S, Perveen R, Chandler K, Clayton-Smith J Tags: Cleft Palate Craniofac J Source Type: research