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Zimmermann-Laband syndrome: further clinical delineation
I P Dávalos1, D García-Cruz, M O García-Cruz
1Divisiones de Genética, CIBO, CMNO, IMSS, Guadalajara, Jalisco, Mexico. ingriddavalos@hotmail.com
Genetic Counseling (Geneva, Switzerland)
|November 3, 2005
Summary
Zimmermann-Laband syndrome (ZLS) is a rare genetic disorder. This study details two new cases, highlighting body overgrowth and cavernous hemangioma as key features, expanding our understanding of ZLS clinical spectrum.
Area of Science:
- Genetics and Rare Diseases
- Pediatric Endocrinology
- Skeletal Dysplasias
Background:
- Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder.
- Characterized by gingival fibromatosis, digital anomalies, vertebral defects, hepatosplenomegaly, hypertrichosis, and potential intellectual disability.
Observation:
- Two unrelated patients, a 9-year-old girl and an 11-month-old boy, were diagnosed with ZLS.
- Both patients exhibited body overgrowth, a previously unreported clinical feature.
- The boy presented with cavernous hemangiomas in the frontal and cerebellar regions.
Findings:
- The girl displayed accelerated skeletal maturation with broad medullary canals, thin cortices, and broad ribs.
- She also exhibited a high intelligence level, contrasting with typical ZLS presentations.
- Radiological findings in both patients confirmed the ZLS diagnosis.
Implications:
- This study expands the known clinical spectrum of Zimmermann-Laband syndrome.
- Highlights body overgrowth and specific neuroimaging findings as important diagnostic considerations.
- Emphasizes the variability of ZLS, including intellectual development and skeletal maturation.