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Brief clinical report and review: the Marden-Walker syndrome.
Am J Med Genet. 1982 Mar; 11(3):259-71.AJ

Abstract

We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low-set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement. Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrated autosomal-recessive inheritance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity.

Authors

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

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7081292

Citation

Jaatoul, N Y., et al. "Brief Clinical Report and Review: the Marden-Walker Syndrome." American Journal of Medical Genetics, vol. 11, no. 3, 1982, pp. 259-71.
Jaatoul NY, Haddad NE, Khoury LA, et al. Brief clinical report and review: the Marden-Walker syndrome. Am J Med Genet. 1982;11(3):259-71.
Jaatoul, N. Y., Haddad, N. E., Khoury, L. A., Afifi, A. K., Bahuth, N. B., Deeb, M. E., Mikati, M. A., & Der Kaloustian, V. M. (1982). Brief clinical report and review: the Marden-Walker syndrome. American Journal of Medical Genetics, 11(3), 259-71.
Jaatoul NY, et al. Brief Clinical Report and Review: the Marden-Walker Syndrome. Am J Med Genet. 1982;11(3):259-71. PubMed PMID: 7081292.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brief clinical report and review: the Marden-Walker syndrome. AU - Jaatoul,N Y, AU - Haddad,N E, AU - Khoury,L A, AU - Afifi,A K, AU - Bahuth,N B, AU - Deeb,M E, AU - Mikati,M A, AU - Der Kaloustian,V M, PY - 1982/3/1/pubmed PY - 1982/3/1/medline PY - 1982/3/1/entrez SP - 259 EP - 71 JF - American journal of medical genetics JO - Am J Med Genet VL - 11 IS - 3 N2 - We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low-set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement. Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrated autosomal-recessive inheritance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7081292/Brief_clinical_report_and_review:_the_Marden_Walker_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1982&volume=11&issue=3&spage=259 DB - PRIME DP - Unbound Medicine ER -