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Severe feeding difficulties in 3C syndrome
1Department of Paediatrics, Rochdale Infirmary, Whitehall street, Rochdale, Lancs OL12 0NB.
Clinical Dysmorphology
|March 17, 2005
Summary
Cranio-cerebellar-cardiac (3C) syndrome is a rare condition characterized by brain malformations, heart defects, and facial abnormalities. Feeding difficulties are a significant challenge in 3C syndrome, impacting growth and development.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Neurology
- Clinical Medicine
Background:
- Cranio-cerebellar-cardiac (3C) syndrome is a rare genetic disorder.
- It is characterized by a specific constellation of congenital anomalies.
Observation:
- A case report details a patient with 3C syndrome.
- The patient exhibited Dandy-Walker malformation, congenital cardiac defect, dysmorphic facies, and postnatal growth failure.
- Severe feeding difficulties and gastro-oesophageal reflux were noted and persisted until age four.
Findings:
- Despite significant medical challenges, the patient demonstrated near-normal development.
- Feeding difficulties appear to be a hallmark and prominent feature of 3C syndrome.
Implications:
- Understanding the prominent role of feeding difficulties in 3C syndrome is crucial for patient management.
- Early intervention for feeding issues may improve outcomes and development in affected children.
- Further research into the pathophysiology of feeding problems in 3C syndrome is warranted.