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Situs inversus totalis and congenital hypoglossia
1Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia. amord@cryptic.rch.unimelb.edu.au
Clinical Dysmorphology
|January 11, 2001
Summary
Congenital hypoglossia, a rare condition, can occur with micrognathia and situs inversus. This case highlights airway and feeding challenges, suggesting a link to other developmental field defects.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Hypoglossia is a rare congenital malformation.
- It can be isolated or associated with other defects, notably limb abnormalities.
Observation:
- A female infant presented with congenital hypoglossia, micrognathia, and situs inversus.
- Complications included significant airway compromise and feeding difficulties.
Findings:
- The infant required tracheostomy and gastrostomy due to severe complications.
- Situs inversus and hypoglossia have been reported together sporadically in six previous cases.
Implications:
- Situs inversus-hypoglossia is part of a spectrum of developmental field defects.
- This condition may represent a milder manifestation of Agnathia-holoprosencephaly spectrum disorders.