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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.
Abstract:
Meckel syndrome is an autosomal recessive condition with a wide phenotypic variation. The most consistent features are cystic kidneys and intrahepatic bile duct anomalies, frequently accompanied by central nervous system (CNS) malformations and polydactyly. Approximately one sixth of all cases also show skeletal anomalies. We present two cases, siblings born to a consanguineous couple, in whom there was a striking curvature and shortening of the long bones in addition to cystic kidneys, CNS abnormalities, and polydactyly. Histological examination of the long bones in the second affected sibling showed mid-diaphysial ectopic cartilaginous growth plates differentiating the long bone changes from other skeletal dysplasias with similar radiological features.
Insights
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.
- 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.