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Conductive deafness in aglossia

K Higashi1, M Edo

  • 1Department of Otolaryngology, Akita University, Japan.

The Journal of Laryngology and Otology
|November 1, 1996
PubMed
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Aglossia, a rare congenital anomaly, often presents with limb deficiency and micrognathia. This case highlights aglossia with a persistent buccopharyngeal membrane and other associated defects in a young girl.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Congenital Anomalies

Background:

  • Aglossia is a rare congenital anomaly.
  • It is frequently associated with other congenital defects.

Observation:

  • A case report of a young girl with aglossia.
  • The patient presented with a persistent anterior buccopharyngeal membrane.
  • Additional anomalies included esophageal atresia, hypoplastic epiglottis, left eyelid ptosis, and conductive deafness.

Findings:

  • The co-occurrence of aglossia and a persistent anterior buccopharyngeal membrane.
  • The constellation of observed anomalies suggests a potential syndromic group.

Implications:

  • Further research into the genetic and developmental pathways of aglossia is warranted.

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  • Understanding this rare syndrome can aid in early diagnosis and management.
  • This case expands the known spectrum of anomalies associated with aglossia.