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Marden-Walker syndrome: a case report and a critical review of the literature.
Clin Dysmorphol. 1993 Jul; 2(3):211-9.CD

Abstract

We present a patient with blepharophimosis, joint contractures, immobile facies, decreased muscular bulk, postnatal growth retardation, developmental delay, micrognathia, cleft palate, camptodactyly, arachnodactyly, pectus, kyphoscoliosis, hypospadias, and absent deep tendon reflexes. These findings are consistent with Marden-Walker syndrome (MWS). Twenty-two additional cases in the literature are reviewed. Diagnostic criteria are proposed, and the spectrum of variability is discussed. Evidence for autosomal recessive inheritance is reviewed as is the differential diagnosis. Possible pathogenetic mechanisms are considered.

Authors+Show Affiliations

Department of Pediatrics, Gundersen Clinic, Ltd, La Crosse, WI 54601.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

7506965

Citation

Williams, M S., et al. "Marden-Walker Syndrome: a Case Report and a Critical Review of the Literature." Clinical Dysmorphology, vol. 2, no. 3, 1993, pp. 211-9.
Williams MS, Josephson KD, Wargowski DS. Marden-Walker syndrome: a case report and a critical review of the literature. Clin Dysmorphol. 1993;2(3):211-9.
Williams, M. S., Josephson, K. D., & Wargowski, D. S. (1993). Marden-Walker syndrome: a case report and a critical review of the literature. Clinical Dysmorphology, 2(3), 211-9.
Williams MS, Josephson KD, Wargowski DS. Marden-Walker Syndrome: a Case Report and a Critical Review of the Literature. Clin Dysmorphol. 1993;2(3):211-9. PubMed PMID: 7506965.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Marden-Walker syndrome: a case report and a critical review of the literature. AU - Williams,M S, AU - Josephson,K D, AU - Wargowski,D S, PY - 1993/7/1/pubmed PY - 1993/7/1/medline PY - 1993/7/1/entrez SP - 211 EP - 9 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 2 IS - 3 N2 - We present a patient with blepharophimosis, joint contractures, immobile facies, decreased muscular bulk, postnatal growth retardation, developmental delay, micrognathia, cleft palate, camptodactyly, arachnodactyly, pectus, kyphoscoliosis, hypospadias, and absent deep tendon reflexes. These findings are consistent with Marden-Walker syndrome (MWS). Twenty-two additional cases in the literature are reviewed. Diagnostic criteria are proposed, and the spectrum of variability is discussed. Evidence for autosomal recessive inheritance is reviewed as is the differential diagnosis. Possible pathogenetic mechanisms are considered. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/7506965/Marden_Walker_syndrome:_a_case_report_and_a_critical_review_of_the_literature_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=7506965.ui DB - PRIME DP - Unbound Medicine ER -