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Published on: December 22, 2015
Atelosteogenesis type I: autopsy findings.
Annasu Wessels1, Helen C Wainwright, Peter Beighton
1Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Summary
This study details two fetal cases of atelosteogenesis type I, a lethal skeletal dysplasia. Autopsy and histologic findings confirmed the diagnosis, aiding in recurrence risk prediction for parents.
Area of Science:
- Medical Genetics
- Developmental Biology
- Skeletal Dysplasias
Background:
- Atelosteogenesis type I is a rare, lethal autosomal dominant skeletal dysplasia.
- Genetic mutations, specifically in the FNLB gene, are implicated in its pathogenesis.
Observation:
- Clinical, radiologic, and autopsy findings were documented for two fetuses (22 and 17 weeks gestation) with atelosteogenesis type I.
- The 17-week-old fetus exhibited features overlapping with atelosteogenesis type II.
- Histologic examination revealed giant cells in growth plate cartilage, confirming atelosteogenesis type I.
Findings:
- Both fetuses presented with tracheal narrowing, stenosis, and pulmonary hypoplasia.
- Additional anomalies included renal microcysts, abnormal pancreatic duct branching, caecal malrotation, and retinal dysplasia in one fetus each.
Implications:
- Accurate diagnosis through postmortem and histologic investigations is crucial for predicting recurrence risks in affected families.
- Understanding the phenotypic spectrum and associated anomalies aids in the diagnosis of lethal fetal skeletal disorders.
