Unusual manifestation of Marden-Walker syndrome
- PMID: 23162309
- PMCID: PMC3491307
- DOI: 10.4103/0971-6866.100798
Unusual manifestation of Marden-Walker syndrome
Abstract
Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.
Keywords: Arthrogryposis; Marden-Walker syndrome; atrial septal defect; inguinal hernia; joint contracture.
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References
-
- Hageman G, Willemse J. Arthrogryposis multiplex congenita.Review with comment. Neuropediatrics. 1983;14:6–11. - PubMed
-
- Begum H, Nayek K. Marden-Walker-like syndrome. Indian Pediatr. 2002;39:878. - PubMed
-
- Marden PM, Walker WA. A new generalized connective tissue syndrome. Am J Dis Child. 1966;112:225–8. - PubMed
-
- Linder N, Mathot I, Livoff A, Glass J, Bornstein I, Gross E, et al. Congenital myopathywith oculo-facial abnormalities (Marden-Walker syndrome) Am J Med Genet. 1991;39:377–9. - PubMed
-
- Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia: Elsevier Saunder; 1997.
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