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Marden-Walker phenotype: a diagnostic dilemma

D Soekarman¹, P Volcke, E Legius

¹Center for Human Genetics, University of Leuven, Belgium.

Genetic Counseling (Geneva, Switzerland)

|January 1, 1996

Summary

Marden-Walker syndrome, characterized by specific physical features, is often diagnosed in infancy. This study presents two cases diagnosed in adolescence and adulthood, suggesting it may represent diverse underlying conditions.

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Area of Science:

Genetics and rare diseases
Clinical case studies
Phenotypic analysis

Background:

Marden-Walker syndrome presents with blepharophimosis, micrognathia, joint contractures, and developmental delays.
Limited follow-up data exists, with most reported cases involving infants and young children.

Purpose of the Study:

To present two cases with phenotypes resembling Marden-Walker syndrome.
To extend the age range of reported Marden-Walker syndrome diagnoses.
To discuss the potential heterogeneous nature of the condition.

Main Methods:

Clinical observation and phenotypic assessment of two patients.
Review of diagnostic criteria for Marden-Walker syndrome.

Main Results:

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Two patients exhibited features consistent with Marden-Walker syndrome.
Diagnosis was established in adolescence and adulthood, expanding the known age spectrum.
The patients presented with blepharophimosis, micrognathia, joint contractures, intellectual disability, and reduced muscle mass.

Conclusions:

Marden-Walker syndrome may be a phenotypic expression of various underlying heterogeneous diseases.
The condition can be diagnosed beyond infancy and early childhood.
Further research is needed to elucidate the diverse etiologies of this phenotype.