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Marden-Walker phenotype: a diagnostic dilemma.
Genet Couns. 1996; 7(1):31-9.GC

Abstract

Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of this condition are blepharophimosis, micrognatia, congenital joint contractures, mental retardation, growth retardation and decreased muscular mass. Follow-up data of patients with this condition are scarce and most patients reported so far were infants or young children. We report two patients meeting many of the criteria proposed for diagnosing this particular phenotype. One case was diagnosed in adolescence and the other as an adult. Initially described as a syndrome, this condition is more likely to be a phenotypic expression of various heterogeneous diseases.

Authors+Show Affiliations

Center for Human Genetics, University of Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8652086

Citation

Soekarman, D, et al. "Marden-Walker Phenotype: a Diagnostic Dilemma." Genetic Counseling (Geneva, Switzerland), vol. 7, no. 1, 1996, pp. 31-9.
Soekarman D, Volcke P, Legius E, et al. Marden-Walker phenotype: a diagnostic dilemma. Genet Couns. 1996;7(1):31-9.
Soekarman, D., Volcke, P., Legius, E., Holvoet, M., & Fryns, J. P. (1996). Marden-Walker phenotype: a diagnostic dilemma. Genetic Counseling (Geneva, Switzerland), 7(1), 31-9.
Soekarman D, et al. Marden-Walker Phenotype: a Diagnostic Dilemma. Genet Couns. 1996;7(1):31-9. PubMed PMID: 8652086.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Marden-Walker phenotype: a diagnostic dilemma. AU - Soekarman,D, AU - Volcke,P, AU - Legius,E, AU - Holvoet,M, AU - Fryns,J P, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 31 EP - 9 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 7 IS - 1 N2 - Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of this condition are blepharophimosis, micrognatia, congenital joint contractures, mental retardation, growth retardation and decreased muscular mass. Follow-up data of patients with this condition are scarce and most patients reported so far were infants or young children. We report two patients meeting many of the criteria proposed for diagnosing this particular phenotype. One case was diagnosed in adolescence and the other as an adult. Initially described as a syndrome, this condition is more likely to be a phenotypic expression of various heterogeneous diseases. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8652086/Marden_Walker_phenotype:_a_diagnostic_dilemma_ DB - PRIME DP - Unbound Medicine ER -