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Extreme microglossia.
M A Thorp1, P J de Waal, C A J Prescott
1Department of Otolaryngology, ENT Department, The Red Cross War Memorial Children's Hospital, University of Cape Town, Klipfontein Road, Rondebosch 7700, South Africa.
International Journal of Pediatric Otorhinolaryngology
|April 17, 2003
Summary
Extreme microglossia, a rare congenital anomaly, typically presents with limb abnormalities. However, this study found five cases of severe microglossia without limb issues, but with significant micrognathia and airway obstruction.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Extreme microglossia is a rare congenital anomaly, with fewer than 50 cases reported globally.
- It is often associated with limb abnormalities, leading to its classification within hypoglossia-hypodactylia syndrome and oromandibular-limb hypogenesis syndromes.
Observation:
- This study details five cases of extreme microglossia diagnosed at a referral center.
- Notably, none of the observed cases presented with limb anomalies, diverging from typical presentations.
- All patients exhibited severe micrognathia (Gorlin-Hall classification type 5), with two requiring tracheostomy due to upper airway obstruction.
Findings:
- The five cases highlight a variant of extreme microglossia presentation without associated limb malformations.
- Severe micrognathia and the need for respiratory support (tracheostomy) were consistent findings.
- All patients required prolonged tube feeding, ranging from 4 to 17 months, indicating significant feeding difficulties.
Implications:
- These findings suggest extreme microglossia can occur independently of limb anomalies, broadening its differential diagnosis.
- The high incidence of micrognathia and airway compromise in this cohort underscores the critical need for early respiratory and nutritional support.
- Further long-term follow-up is essential to understand the full spectrum and developmental outcomes of this microglossia variant.