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Achondrogenesis type II with normally developed extremities: a case report
1Department of Radiology, Firat University, Faculty of Medicine, Elazig, Turkey. ekocakoc@hotmail.com
Prenatal Diagnosis
|July 19, 2002
Summary
Achondrogenesis type II can occur with normal limb development, challenging prenatal diagnosis. Vertebral ossification absence on intrauterine ultrasound is a key indicator.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Prenatal Diagnosis
Background:
- Achondrogenesis type II is a severe skeletal dysplasia.
- Diagnosis often relies on characteristic limb abnormalities.
Observation:
- A case of achondrogenesis type II presented with normally developed extremities.
- Postmortem ultrasonography and radiography confirmed the diagnosis.
Findings:
- Long bone length can vary in achondrogenesis type II.
- Absence of vertebral body ossification on intrauterine ultrasound is a critical diagnostic sign.
Implications:
- Prenatal diagnosis of achondrogenesis type II requires careful evaluation of vertebral development.
- Ultrasonography and radiography are crucial for confirming the pathology.