Craniofacial abnormalities among patients with Edwards Syndrome
Rafael Fabiano M Rosa1, Rosana Cardoso M Rosa, Marina Boff Lorenzen
1UFCSPA, Porto AlegreRS, Brasil.
Summary
Craniofacial abnormalities are common in Edwards syndrome (trisomy 18), with microretrognathia and ear anomalies being most frequent. Some patients exhibit features overlapping with oculo-auriculo-vertebral spectrum.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Edwards syndrome (trisomy 18) is a genetic disorder associated with multiple congenital anomalies.
- Characteristic craniofacial features are often described in Edwards syndrome, but variability exists.
Purpose of the Study:
- To investigate the frequency and types of craniofacial abnormalities in patients with Edwards syndrome.
- To document the spectrum of craniofacial malformations in a Brazilian cohort.
Main Methods:
- Retrospective case series analysis of patients diagnosed with Edwards syndrome.
- Inclusion of karyotypic and clinical data from a Clinical Genetics Service.
- Data collection from 1975 to 2008.
Main Results:
- Fifty patients with Edwards syndrome were analyzed; 66% were female.
- The most common craniofacial abnormalities included microretrognathia (76%) and ear anomalies (70%).
- Other significant findings included prominent occiput, ear position/rotation anomalies, and short palpebral fissures. One case showed features suggestive of oculo-auriculo-vertebral spectrum (OAVS).
Conclusions:
- Craniofacial alterations in Edwards syndrome are diverse and may not always align with typical descriptions.
- The presence of OAVS-like features in an Edwards syndrome patient is a notable finding.
- Further investigation into the potential association between Edwards syndrome and OAVS is warranted.
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