Supplementary Material for: Novel clinical and genetic findings in Laurin-Sandrow Syndrome

A 104.2 KB PDF document provides supplementary material for a case report on the rare Laurin-Sandrow syndrome. The report describes an individual with a novel triplication of the ZRS enhancer region on chromosome 7q36, associated with Sonic hedgehog signaling interruption. Authored by figshare admin karger and last updated in April 2026, the material details unique clinical features including an unerupted single central maxillary incisor.

Use Cases

• Studying genotype-phenotype correlations in rare syndromes based on the described genetic triplication and clinical features.
• Investigating the role of the ZRS enhancer in craniofacial development beyond limb patterning, as suggested by the nasal and dental anomalies.
• Benchmarking clinical findings for Laurin-Sandrow syndrome based on the documented case of polysyndactyly and ulnar/fibular duplication.

Strengths

• Document is licensed under CC-BY-4.0, permitting open sharing and adaptation.
• The case report describes a novel genetic finding—a triplication of the ZRS region—not previously detailed in the syndrome.

Limitations

• The dataset is a single 104.2 KB PDF file, representing a very limited scope of one case report.
• Row count and column-level documentation are absent; data structure must be inferred from the text.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Likely contains clinical and genetic analysis from a single case study.

Time Range

Publication date of the case report is not specified.

Freshness

Last updated 2026-04-24 07:55:18; freshness should be verified.

Geography

Geographic origin of the case is not specified.