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Cayler cardiofacial syndrome with situs inversus totalis
Birendra Rai1, Debkrishna Mallick, Rajoo Thapa
1Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland, drbirendrarai@gmail.com.
Insights
Cayler cardiofacial syndrome involves a facial anomaly and heart defects. A rare case highlights situs inversus totalis, emphasizing the need for awareness of associated internal organ anomalies.
Area of Science:
- Medical Genetics
- Paediatric Cardiology
- Developmental Biology
Background:
- Cayler cardiofacial syndrome is defined by unilateral depressor anguli oris muscle (DAOM) hypoplasia, leading to an asymmetric crying face.
- This condition is frequently associated with congenital cardiac defects, necessitating thorough cardiac evaluation.
Observation:
- A case report details a male newborn with right-sided DAOM hypoplasia.
- The infant also presented with dextrocardia, a component of situs inversus totalis.
Findings:
- This presentation represents the first documented instance of situs inversus totalis within Cayler cardiofacial syndrome.
- The findings underscore the potential for diverse and severe internal organ anomalies beyond cardiac defects.
Implications:
- Paediatricians must recognize that the asymmetric crying face can mask significant internal anomalies.
- Early recognition and comprehensive screening are crucial for managing patients with Cayler cardiofacial syndrome.
- This case expands the known spectrum of anomalies associated with this syndrome.
Abstract:
Cayler cardiofacial syndrome is characterised by congenital unilateral hypoplasia of the depressor anguli oris muscle (DAOM) in association with congenital cardiac defects. Hypoplasia of this muscle causes inability to move one corner of the mouth downward and outward while crying or grimacing, giving rise to an 'asymmetric crying face' appearance. A variety of congenital cardiac defects have been described. Occasionally, other organ system anomalies may be additionally present. We present an instance of right-sided hypoplasia of the DAOM in a male newborn, which additionally had dextrocardia as a component of situs inversus totalis. To our knowledge, situs inversus totalis has not been previously documented as a part of this syndrome. Additionally, we reiterate that paediatricians need to be aware that this minor facial anomaly may be associated with severe internal organ system anomalies, with cardiac being most common.
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