Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand)

Area of Science:

• Medical Genetics
• Dermatoglyphics
• Clinical Dysmorphology

Background:

• Robinow syndrome is a rare autosomal dominant developmental disorder characterized by distinctive facial features, skeletal abnormalities, and growth retardation.
• Hand malformations are a recognized feature of Robinow syndrome, but detailed dermatoglyphic analysis is less commonly reported.

Observation:

• This study describes fourteen cases of Robinow syndrome, with a focus on hand malformations and dermatoglyphic findings.
• Specific hand anomalies observed include split hands, ectrodactyly with nail hypoplasia, and hypoplastic extra middle finger.
• Dermatoglyphic analysis was conducted on ten affected individuals.

Findings:

• Increased frequency of fingertip whorl patterns was observed in the affected individuals.
• A unique single large palmar hypothenar whorl pattern was identified.
• Distally displaced axial triradii were noted in association with the palmar hypothenar whorl pattern.

Implications:

• These novel dermatoglyphic findings may aid in the diagnosis and understanding of Robinow syndrome.
• The specific patterns described could serve as potential biomarkers for the condition.
• Further research into the genetic and developmental basis of these dermatoglyphic anomalies is warranted.