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Published on: August 24, 2013
Wide clinical spectrum in Zimmermann-Laband syndrome
I P Davalos1, A J L Brambila-Tapia, N O Dávalos
1División de Genética, Centro de lnvestigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, México. ingriddavalos@hotmail.com
Genetic Counseling (Geneva, Switzerland)
|May 28, 2011
Summary
Zimmermann-Laband syndrome (ZLS) is a rare genetic disorder. This case highlights a new symptom, deafness, expanding the known clinical spectrum of ZLS.
Area of Science:
- Genetics
- Medical Genetics
- Rare Diseases
Background:
- Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder.
- ZLS is characterized by gingival fibromatosis, distinctive facial features, nail dysplasia, and skeletal anomalies.
Observation:
- A five-year-old girl presented with clinical and radiological features of ZLS.
- The patient exhibited deafness, a symptom not previously documented in ZLS.
- Her father showed some suggestive facial features but lacked gingival fibromatosis.
Findings:
- This case expands the clinical presentation of Zimmermann-Laband syndrome.
- The findings suggest ZLS might be a contiguous gene syndrome or a mutation with variable expressivity.
Implications:
- This report broadens the understanding of ZLS clinical variability.
- Further research is needed to explore the genetic basis and full spectrum of ZLS.
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