Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome’s Rare Features Across Generations in a Familial Trilogy
Nirat Tiwari,
Keta Vagha,
Aaditi Agarwal
et al.
Abstract:Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors.… Show more
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