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Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.
Birth Defects Orig Artic Ser. 1975; 11(2):104-8.BD

Abstract

Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1227520

Citation

Temtamy, S A., et al. "Probable Marden-Walker Syndrome: Evidence for Autosomal Recessive Inheritance." Birth Defects Original Article Series, vol. 11, no. 2, 1975, pp. 104-8.
Temtamy SA, Shoukry AS, Raafat M, et al. Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. Birth Defects Orig Artic Ser. 1975;11(2):104-8.
Temtamy, S. A., Shoukry, A. S., Raafat, M., & Mihareb, S. (1975). Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. Birth Defects Original Article Series, 11(2), 104-8.
Temtamy SA, et al. Probable Marden-Walker Syndrome: Evidence for Autosomal Recessive Inheritance. Birth Defects Orig Artic Ser. 1975;11(2):104-8. PubMed PMID: 1227520.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. AU - Temtamy,S A, AU - Shoukry,A S, AU - Raafat,M, AU - Mihareb,S, PY - 1975/1/1/pubmed PY - 1975/1/1/medline PY - 1975/1/1/entrez SP - 104 EP - 8 JF - Birth defects original article series JO - Birth Defects Orig. Artic. Ser. VL - 11 IS - 2 N2 - Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/1227520/Probable_Marden_Walker_syndrome:_evidence_for_autosomal_recessive_inheritance_ L2 - http://www.diseaseinfosearch.org/result/4464 DB - PRIME DP - Unbound Medicine ER -