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Related Experiment Videos

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
PubMed
Summary
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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.

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  • 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.