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Walker-Warburg syndrome with microtia and absent auditory canals.
Am J Med Genet. 1990 Sep; 37(1):87-91.AJ

Abstract

Walker-Warburg syndrome is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system and eye. Typical findings include hydrocephalus, agyria, retinal dysplasia, cerebellar dysgenesis, anterior chamber dysgenesis, and encephalocele. Recently, the phenotypic spectrum has been expanded to include congenital muscular dystrophy. Two sibs with Walker-Warburg syndrome are reported. One sib had congenital glaucoma and hydrocephalus. The other sib had hydrocephalus, microtia, absent auditory canals, and pale retinas, barely within the phenotypic spectrum of the disorder. Elevation of muscle enzymes was consistent with the diagnosis of Walker-Warburg syndrome.

Authors+Show Affiliations

Department of Pediatrics, Rambam Medical Center, Haifa, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

2240049

Citation

Gershoni-Baruch, R, et al. "Walker-Warburg Syndrome With Microtia and Absent Auditory Canals." American Journal of Medical Genetics, vol. 37, no. 1, 1990, pp. 87-91.
Gershoni-Baruch R, Mandel H, Miller B, et al. Walker-Warburg syndrome with microtia and absent auditory canals. Am J Med Genet. 1990;37(1):87-91.
Gershoni-Baruch, R., Mandel, H., Miller, B., Sujov, P., & Braun, J. (1990). Walker-Warburg syndrome with microtia and absent auditory canals. American Journal of Medical Genetics, 37(1), 87-91.
Gershoni-Baruch R, et al. Walker-Warburg Syndrome With Microtia and Absent Auditory Canals. Am J Med Genet. 1990;37(1):87-91. PubMed PMID: 2240049.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Walker-Warburg syndrome with microtia and absent auditory canals. AU - Gershoni-Baruch,R, AU - Mandel,H, AU - Miller,B, AU - Sujov,P, AU - Braun,J, PY - 1990/9/1/pubmed PY - 1990/9/1/medline PY - 1990/9/1/entrez SP - 87 EP - 91 JF - American journal of medical genetics JO - Am J Med Genet VL - 37 IS - 1 N2 - Walker-Warburg syndrome is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system and eye. Typical findings include hydrocephalus, agyria, retinal dysplasia, cerebellar dysgenesis, anterior chamber dysgenesis, and encephalocele. Recently, the phenotypic spectrum has been expanded to include congenital muscular dystrophy. Two sibs with Walker-Warburg syndrome are reported. One sib had congenital glaucoma and hydrocephalus. The other sib had hydrocephalus, microtia, absent auditory canals, and pale retinas, barely within the phenotypic spectrum of the disorder. Elevation of muscle enzymes was consistent with the diagnosis of Walker-Warburg syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2240049/Walker_Warburg_syndrome_with_microtia_and_absent_auditory_canals_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=37&issue=1&spage=87 DB - PRIME DP - Unbound Medicine ER -