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Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
Published on: December 3, 2016
Clinical and radiological features of chondroectodermal dysplasia
B Benjamin1, M F Omojola, K Ashouri
1Departments of Child Health, Medicine, College of Medicine, King Saud University, and Department of Medicine, Assir Central Hospital, Abha, Saudi Arabia.
Annals of Saudi Medicine
|September 1, 1991
Summary
Chondroectodermal dysplasia, a rare genetic disorder, is documented in Saudi Arabia. This report details its clinical and radiological features, aiding early diagnosis of this ectodermal and mesodermal anomaly.
Area of Science:
- Medical Genetics
- Clinical Medicine
- Radiology
Background:
- Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is a rare genetic disorder characterized by ectodermal and mesodermal abnormalities.
- Previous documentation of this syndrome in Saudi Arabia is limited.
Purpose of the Study:
- To document the presence and describe the clinical and radiological features of chondroectodermal dysplasia in southwestern Saudi Arabia.
- To highlight features that aid in the early recognition of the syndrome.
Main Methods:
- Clinical examination of three patients from two families.
- Radiological assessment of skeletal and cardiac features.
- Review of existing literature on chondroectodermal dysplasia.
Main Results:
- All patients presented with mesomelic dwarfism, orodental manifestations, small thorax, nail hypoplasia, and hand polydactyly.
- Cardiac anomalies, including atrial septal defect and congestive heart failure, were observed in two patients.
- Radiological variations included vertebral scalloping, syntarsaly, and foot polydactyly.
Conclusions:
- This report confirms the occurrence of chondroectodermal dysplasia in southwestern Saudi Arabia.
- The combination of ectodermal and mesodermal anomalies is key for early diagnosis.
- Recognizing typical and variant features improves diagnostic accuracy and patient management.
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