Tags

Type your tag names separated by a space and hit enter

The Meckel syndrome: clinicopathological findings in 67 patients.
Am J Med Genet. 1984 Aug; 18(4):671-89.AJ

Abstract

A nationwide study on the Meckel syndrome (MS) was carried out covering retrospectively the years 1970-1979 and prospectively the years 1980-1981. Sixty-seven cases from 48 Finnish families were found. The clinical and pathological findings were studied. Cystic dysplasia of the kidneys was present in all the cases where sufficient information was available. In all 41 cases with specimens available from the liver, a typical fibrotic change with proliferation and dilatation of the bile ducts was found. This series and a review of the literature give convincing evidence that cystic dysplasia of the kidneys with fibrosis of the liver is a constant finding in the "true" Meckel syndrome. In conclusion, it is proposed that cystic dysplasia of the kidneys with fibrotic changes of the liver and occipital encephalocele or some other central nervous system malformation are considered as minimal diagnostic criteria of MS. Thus, a histologic investigation of the kidneys and liver is essential in diagnosing MS in doubtful cases. Heterozygote manifestations were not found.

Authors

No affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

6486167

Citation

Salonen, R. "The Meckel Syndrome: Clinicopathological Findings in 67 Patients." American Journal of Medical Genetics, vol. 18, no. 4, 1984, pp. 671-89.
Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984;18(4):671-89.
Salonen, R. (1984). The Meckel syndrome: clinicopathological findings in 67 patients. American Journal of Medical Genetics, 18(4), 671-89.
Salonen R. The Meckel Syndrome: Clinicopathological Findings in 67 Patients. Am J Med Genet. 1984;18(4):671-89. PubMed PMID: 6486167.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Meckel syndrome: clinicopathological findings in 67 patients. A1 - Salonen,R, PY - 1984/8/1/pubmed PY - 1984/8/1/medline PY - 1984/8/1/entrez SP - 671 EP - 89 JF - American journal of medical genetics JO - Am J Med Genet VL - 18 IS - 4 N2 - A nationwide study on the Meckel syndrome (MS) was carried out covering retrospectively the years 1970-1979 and prospectively the years 1980-1981. Sixty-seven cases from 48 Finnish families were found. The clinical and pathological findings were studied. Cystic dysplasia of the kidneys was present in all the cases where sufficient information was available. In all 41 cases with specimens available from the liver, a typical fibrotic change with proliferation and dilatation of the bile ducts was found. This series and a review of the literature give convincing evidence that cystic dysplasia of the kidneys with fibrosis of the liver is a constant finding in the "true" Meckel syndrome. In conclusion, it is proposed that cystic dysplasia of the kidneys with fibrotic changes of the liver and occipital encephalocele or some other central nervous system malformation are considered as minimal diagnostic criteria of MS. Thus, a histologic investigation of the kidneys and liver is essential in diagnosing MS in doubtful cases. Heterozygote manifestations were not found. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6486167/The_Meckel_syndrome:_clinicopathological_findings_in_67_patients_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=18&issue=4&spage=671 DB - PRIME DP - Unbound Medicine ER -