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Related Experiment Videos

Skeletal abnormalities in Meckel syndrome

J Shanks1, B Kerr, S A Russell

  • 1Department of Histopathology, St. Mary's Hospital for Women and Children, Manchester, England.

Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association
|July 1, 1997
PubMed
Summary
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Meckel syndrome, a genetic disorder, can cause severe skeletal abnormalities, including bone curvature and shortening. Histology revealed ectopic growth plates, distinguishing it from other skeletal dysplasias.

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasias

Background:

  • Meckel syndrome is an autosomal recessive disorder characterized by variable phenotypes.
  • Key features include cystic kidneys, intrahepatic bile duct anomalies, CNS malformations, and polydactyly.
  • Skeletal anomalies occur in about one-sixth of cases.

Observation:

  • Two siblings from a consanguineous family presented with Meckel syndrome.
  • They exhibited cystic kidneys, CNS abnormalities, polydactyly, and significant long bone curvature and shortening.
  • Histological analysis of long bones in one sibling revealed ectopic cartilaginous growth plates.

Findings:

  • The observed long bone abnormalities in these siblings are distinct from typical skeletal dysplasias.
  • Ectopic cartilaginous growth plates at the mid-diaphysis are a key differentiating feature.

Related Experiment Videos

  • This suggests a specific skeletal manifestation within the spectrum of Meckel syndrome.

    • Implications:

    • This case report expands the understanding of Meckel syndrome's phenotypic variability.
    • It highlights the importance of detailed skeletal evaluation, including histology, in diagnosing rare genetic disorders.
    • Recognizing these specific bone changes can aid in differential diagnosis and genetic counseling.