Oculodentodigital dysplasia.

Area of Science:

• Medical Genetics
• Clinical Dysmorphology

Background:

• Oculodentodigital dysplasia (ODD) is a rare autosomal dominant disorder characterized by craniofacial, dental, and limb anomalies.
• Previous literature describes typical features including a prominent forehead, midface hypoplasia, enamel hypoplasia, and digital abnormalities.

Observation:

• This report details a case of ODD in a 35-year-old male presenting with characteristic facies, microcornea, and dental dysplasia.
• The patient exhibited digital findings that were largely consistent with ODD, but included an atypical presentation of almost complete aplasia of the right foot.

Findings:

• The diagnosis of ODD was confirmed through clinical examination, highlighting the constellation of ocular, dental, and digital manifestations.
• The presence of near-complete aplasia of the right foot represents a significant, albeit consistent, variation in the digital phenotype of ODD.
• Mental retardation was observed, but its direct association with ODD remains unclear, suggesting potential for coincidental occurrence.

Implications:

• This case expands the known phenotypic spectrum of oculodentodigital dysplasia, particularly regarding digital anomalies.
• Further research is warranted to elucidate the genetic underpinnings and variability of ODD, and to clarify the potential link between ODD and cognitive impairment.
• Accurate diagnosis and understanding of ODD's phenotypic variability are crucial for genetic counseling and patient management.